EZH2-Related Overgrowth: gene sequencing. Three sibs, two girls aged 18 and 9 years, and a 7-year-old boy, were found to have Guadalajara camptodactyly syndrome type I (GCSI). It is diagnosed in ~13% of the population before 18 years of age (American Association of Intellectual and Developmental Disabilities, AAIDD). Some girls may experience delayed puberty as well. Joint contracture of the 5th finger HP:0009183. Facial dysmorphology (2 or more features), growth deficiency, CNS dysfunction and neurobehavioral Impairment. 94 Affected children are frequently born with camptodactyly (trigger fingers) and may have undergone surgical correction before presenting with large and small joint This is the American ICD-10-CM version of Q68.1 - other international versions of ICD-10 Q68.1 may differ. Developmental delay/intellectual disability of variable degree are present in all, and hypotonia in 95%. Synonyms: 5th finger camptodactyly, Fifth finger camptodactyly. No members ofthis family showed pectus excavatum, scoliosis, ptosis, orhypogonadism. The philtral ridges and the philtrum are formed by a unique collection of dermal collagen and dense elastic tissue. The main symptoms of Glass syndrome include intellectual disability and limited to zero speech development. Data for gene Vcpip1 is all freely available for download. In addition, camptodactyly has been reported as a recessive disorder with ichthyosis (113), and as a dominant with scoliosis (114), with symphalangism (115), and with brachydactyly (116). Camptodactyly is clinically manifested by soft-tissue flexion contractures of the fingers at one or several joints. Down syndrome; an extra copy of chromosome 21. Learn from their data and experience. Some patients have mild microcephaly. C R O G V Camptodactyly syndrome, Guadalajara type 1 C R O G V Camptodactyly syndrome, Guadalajara type 3 Dysostosis of genetic origin with limb anomaly as a major feature Some anatomic differences have been seen in the affected fingers of children with camptodactyly. 2. It is characterized by craniofacial and skeletal abnormalities, severely reduced muscle tone, and impairment of reflexes. Fixed - release all tight volar structures - skin / FDS / volar plate / capsule - +/- FDS transfer to the extensor hood . He had psychomotor retardation, short stature, umbilical hernia, a secundum atrial Camptodactyly: A flexed finger (bent at the middle joint) that cannot straighten. [citation needed]It is a fairly common isolated anomaly which often goes unnoticed, but also occurs in combination with other abnormalities in certain genetic syndromes. Camptodactyly Camptodactyly: classification and therapeutic results. An extremely rare chondrodysplastic malformation syndrome characterized by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly, and scoliosis. A congenital, fixed digital flexion deformity most often seen in the 5th digit; Associated with several congenital syndromes, including Down syndrome Down syndrome is the most common genetic cause of intellectual disability. Camptodactyly is common and affects about 1% of the population. This study aimed to evaluate the use of a one-stage extension shortening osteotomy of the proximal phalanx for patients with syndromic camptodactyly without tendon surgery. General Discussion. Variations in the anatomy of the lips and philtrum can be indicative of developmental abnormalities. POSTOPERATIVE DIAGNOSIS: Right long finger camptodactyly ANESTHESIA: General plus 3 cc of 0.5% plain ropivacaine. If you want to learn more about the list of disabilities covered under ADA, you can post your legal need on UpCounsels marketplace. It refers to an abnormal curvature of the finger, and it often doesn't require treatment. Camptodactyly: Flexion deformity at proximal interphalangeal joints Limbs Shape: Often fusiform or cylindrical Length: Mildly short Skin (At joints) Absent creases Dimpling Webbing Pterygia or Webs Early Arthrogryposis Multiplex Congenita & Intellectual Disability 27 intellectual disability Acronym stands for camptodactyly, tall stature, scoliosis, and hearing loss; may increase risk for intellectual disability Acronym stands for coloboma, heart defects, atresia of the choanae, retardation of growth and development, genital abnormality, ear abnormalities; may cause hearing loss, developmental delays, Drug addiction. Intellectual disability and short stature with hand contracture and genital anomaly syndrome (716334004); Urban Rogers Meyer syndrome (716334004); Prader Willi habitus with osteopenia and camptodactyly (716334004) Modes of inheritance: The term camptodactyly of the 5th finger is used if the distal and/or proximal interphalangeal joints are affected. severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome (1) Tbio 1. Clinodactyly is a rare birth defect that can happen to anyone but is more common in those with Down syndrome. Introduction. Camptodactyly and also a flexion deformity with palmar webbing of all the fingers was described . Some of these children reach adolescence or adulthood although most have some degree of intellectual disability, hearing loss and vision problems. Camptodactyly is a genetic condition in which the child is born with a finger that is in a bent position and cannot be straightened. Camptodactyly often does not cause functional impairment, meaning that patients seek medical attention for concerns relating to cosmetic appearance or military recruitment 5). camptodactyly: [ kampto-dakt-le ] permanent flexion of one or more fingers. The root cause of Camptodactyly is not known but it is known to occur along with other genetic medical conditions like Marfan Syndrome, Jacobsen Syndrome and the like. Global developmental delay is a consistent feature manifest as delays in walking and speech and eventual intellectual disability. Intellectual disability, moderate Abnormal antihelix morphology Abnormal rib morphology Abnormality of the pinna Anteverted nares Broad nasal tip Camptodactyly of finger Corneal opacity Deep palmar crease Deep plantar creases Deeply set eye Dolichocephaly Frontal bossing Hydronephrosis Hypertelorism Limitation of joint mobility Long face Macrotia Micrognathia See also dysgenesis. T/F: The only known risk factor for autosomal aneuploidy is the age of the mother. The fifth finger is always affected. We examined a four-generation arthrogryposis pedigree characterized by camptodactyly, limited forearm supination, and loss of myofibers in the forearms and hands. Girls with Penta X Syndrome typically have delayed growth, resulting in short stature and trouble gaining weight. dysplasia [dis-plazhah] an abnormality of development; in pathology, alteration in size, shape, and organization of adult cells. Camptodactyly can be caused by a genetic disorder. q. Disease definition Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, (a) Both feet show clubfoot and dorsal fexion of the first toes. Camptodactyly. In spite of tracheotomy, the first child of the family died 10 hours after birth. Discover Vcpip1's significant phenotypes, expression, images, histopathology and more. For efficiency and practicality, the focus is commonly on major structural anomalies. See how people just like you are living with camptodactyly. Chronic loss of joint motion in the 5th finger due to structural changes in non-bony tissue. Most often affects the small finger. Find support organizations and financial resources for Camptodactyly-ichthyosis syndrome. Features: syndactyly (hands and feet), camptodactyly, brachydactyly (hands and feet), polydactyly (hands and feet), obesity (from childhood), craniosynostosis, hydrocephalus, brachycephaly, mandibular/maxillary hypoplasia and other distinctive facial features (low-set ears, abnormal eye shape, flat nasal bridge), cardiac defects (including dextrocardia in some cases), Marked soft-tissue swelling can occur due to granulomatous inflammation in both intra-articular synovium and tenosynovium, which can cause characteristic camptodactyly (that is, flexion contracture of fingers and toes) and, occasionally, subsequent impairment of A rare intellectual disability syndrome with most common characteristics of megalocornea, congenital hypotonia, varying degrees of intellectual disability, psychomotor/developmental delay, seizures, and mild facial dysmorphism (including round face, frontal bossing, antimongoloid slant of the eyes, epicanthal folds, large low set ears, broad nasal base, anteverted nostrils, Applicable To. Camptodactyly syndrome, Guadalajara type 3 is a rare, genetic bone development disorder characterized by hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with stricking pterygia, muscle sclerosis). Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome (OMIM #208250) is an autosomal recessive disorder resulting from a mutations in the proteoglycan-4 gene encoding for the protein lubricin. PROCEDURES: 1. These include abnormal lumbrical insertion, abdnormal flexor digitorum superficialis insertion, abnormal extensor tendon anatomy, skin contracture, joint contracture. Camptodactyly Symptom Checker: Possible causes include Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations. Two sibs are reported with severe developmental retardation combined with the clinical triad of camptodactyly, whistling face and Pierre Robin sequence as clinical signs of fetal hypokinesia. Seen in newborns, but may develop in young adolescents. What causes camptodactyly? Intellectual disability (ID) is a descriptive term for subaverage intelligence and impaired adaptive functioning arising in the developmental period (< 18 y). It is a long-established teaching to avoid operating on camptodactyly unless there is a failure of non-operative treatment, such as serial splinting and hand therapy, and there is an established proximal interphalangeal joint (PIPJ) contracture of 60; a recent systematic review reflects this continuing approach, with some papers advocating intervention Camptodactyly of finger, Rocker bottom foot, Talipes equinovarus, Camptodactyly of toe, Adducted OMIM:619110 Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome There was also camptodactyly (permanently bent fingers), and a slight clubfoot malformation (figure 1). Impairment is a problem in body func tion or structure; an activity limitation is a camptodactyly, arachnodactyly, absent or hypop lastic nails, and terminal transverse defects of the fingers and toes. Intellectual disability, mild: Mental retardation, borderline-mild PubMed is a searchable database of medical literature and lists journal articles that discuss Camptodactyly syndrome Guadalajara type 3. Prader-Willi habitus, osteopenia, and camptodactyly syndrome is characterized by intellectual disability, short stature, obesity, genital abnormalities, and hand and/or toe contractures.It has only been described in two brothers and An extremely rare chondrodysplastic malformation syndrome characterized by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly, and scoliosis. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. GTR Test ID Help Each Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. Two such families have been reported, one with a heterozygous mutation and the other with a homozygous mutation. Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Q68.1 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes. Check the full list of possible causes and conditions now! Congenital Anomalies in Dubai - & abu dhabi can cause long-term disability or even death if not treated at the right. DESCRIPTION. Clinical Features. We describe a French young man with digital anomalies consisting of brachydactyly, F1-5 bilateral camptodactyly, interdigital webbing, F5 bilateral radial clinodactyly, and partial syndactyly of some fingers and toes. OMIM:610474 Camptodactyly, Tall Stature, And Hearing Loss Syndrome FGFR3 ORPHA:1325 Camptodactyly-taurinuria Syndrome ORPHA:261337 Distal 22q11.2 Microduplication Syndrome OMIM:175700 Greig Cephalopolysyndactyly Syndrome GLI3 ORPHA:457279 Intellectual Disability-macrocephaly-hypotonia-behavioral Abnormalities Syndrome PPP2R5D It is sometimes called radial club hand, radial dysplasia, or radius deficiency. Fetal Alcohol Effect (FAE) or Partial Fetal Alcohol Syndrome (PFAS) Only part of FAS signs present. Additional reported manifestations include a mild intellectual disability and a mild facial dysmorphism including a broad nose and flaring nostrils. Hao-Fountain syndrome (1) Tchem 1. Camptodactyly does not cause swelling, inflammation or warmth to the area. Camptodactyly is diagnosed by your childs doctor after a thorough medical history and careful physical examination. X-rays are also used to confirm the diagnosis. In addition to a physical exam and X-rays, your child may also undergo: Camptodactyly is a permanent progressive flexion contracture at the proximal interphalangeal joints with skin shortening on the palmar surface of the finger and palm 1), either unilaterally or bilaterally 2). GTR Test ID Help Each Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped In that case, it is an autosomal dominant trait that is known for its incomplete genetic expressivity. Achondroplasia; Camptodactyly-tall stature-scoliosis-hearing loss syndrome; Crouzon syndrome with acanthosis nigricans; Levy-Hollister syndrome; Muenke syndrome; Thanatophoric dysplasia type 1; Thanatophoric dysplasia, type 2; Hypochondroplasia; Severe achondroplasia with developmental delay and acanthosis nigricans The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. Related terms: Intellectual and Developmental Disabilities; Hypoplasia (e) Sanger sequencing revealed that the patient had a HIV infection. Feeding difficulties are common. They had intrauterine growth retardation, dwarfism, peculiar facial appearance, camptodactyly and skeletal anomalies. Camptodactyly of toe: 0001836 Global developmental delay: 0001263 Increased vertebral height: 0004570 Intellectual disability 2 cases have been reported in Specific learning disabilities. > 60 & functional disability . Both individuals share a similar clinical phenotype including moderate to severe intellectual disability, autism/autistic Background Balanced reciprocal translocation is usually an exchange of two terminal segments from different chromosomes without phenotypic effect on the carrier while leading to increased risk of generating unbalanced gametes. Phenotype data for mouse gene Vcpip1. Congenital contractural arachnodactyly (CCA) is an extremely rare genetic disorder characterized by a Marfan-like body habitus (tall, slender), the permanent fixation of certain joints (e.g., fingers, elbows, knees, and hips) in a flexed position (contractures); abnormally long, slender fingers and toes (arachnodactyly); permanently flexed fingers Comparisons are essential to arrive at a correct diagnosis. Other characteristic findings include brachy/camptodactyly and short feet. adj., adj dysplastic. Achondroplasia; Camptodactyly-tall stature-scoliosis-hearing loss syndrome; Crouzon syndrome with acanthosis nigricans; Levy-Hollister syndrome; Muenke syndrome; Thanatophoric dysplasia type 1; Thanatophoric dysplasia, type 2; Hypochondroplasia; Severe achondroplasia with developmental delay and acanthosis nigricans Human Phenotype Ontology. Cancer, Multiple Sclerosis, and other serious impairments are not considered disabilities. Skeletal findings include arachnodactyly, scoliosis, and a combination of joint hyperlaxity and contractures with camptodactyly. 1 This condition is quite rare and affects about 1% of children. In general, to qualify for Social Security disability benefits, a person must have worked in jobs covered by Social Security and have a medical condition that meets Social Security's definition of disability. camptodactyly syndrome, Guadalajara type 3 (0) attention deficit-hyperactivity disorder, susceptibility to, 5 (0) Except Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. A number sign (#) is used with this entry because of evidence that the camptodactyly, tall stature, and hearing loss syndrome (CATSHLS) is caused by mutation in the FGFR3 gene (134934) on chromosome 4p16. 2. and no member had residual disability at the time of the report. Benson et al. Camptodactyly is an isolated congenital flexion deformity of the proximal interphalangel (PIP) joint. The cause of camptodactyly is often unknown. From: Emery and Rimoin's Principles and Practice of Medical Genetics, 2013. Transfer of right long finger FDS tendon to the dorsal extensor hood OPERATIVE FINDINGS: Consistent with significant improvement in the degree of contracture. Click on the link to view a sample search on this topic. The 2022 edition of ICD-10-CM Q68.1 became effective on October 1, 2021. Radial longitudinal deficiency is a rare condition that affects the forearm. Additional reported manifestations include a mild intellectual disability and a mild facial dysmorphism including a broad nose and flaring nostrils. tal delays and intellectual disability Acronym stands for camptodactyly, tall stature, scoliosis, and hearing loss; may increase risk for intellectual disability Causes heart defects, intellectual disability, developmental delays, growth delays, and increased risk of malignant tumors A type of craniosynostosis; also causes Behavioral problems, and specifically hyperactivity and aggressive tendencies, characterize the syndrome. Here we describe a four-generation family in Shandong province of China with at least three patients sharing severe intellectual Comparison with other camptodactyly syndromes le of any other joint disability or of epilepsy. Disability is an umbrella term, covering impairments, activity limitations, and participation restrictions. a congenital anomaly is a structural abnormality of any type that is present at. Transfer of right long finger FDS tendon to the dorsal extensor hood OPERATIVE FINDINGS: Consistent with significant improvement in the degree of contracture. Fetal alcohol syndrome (FAS) and fetal alcohol spectrum disorders (FASD) result from intrauterine exposure to alcohol and are the most common nonheritable causes of intellectual disability. In addition, camptodactyly has been reported as a recessive disorder with ichthyosis (113), and as a dominant with scoliosis (114), with symphalangism (115), and with brachydactyly (116). To arrive at the top five similar articles we use a word-weighted algorithm to compare words from the Title and Abstract of each citation. cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome (1) T. The p arm is the shorter arm of the chromosome, while the ___ arm is longer. During infancy and childhood, girls with Penta X may exhibit motor delays, moderate to severe intellectual disability, and speech and communication difficulties. Abstract. Cleft hand: A split hand that is usually V-shaped and may also include missing fingers. POSTOPERATIVE DIAGNOSIS: Right long finger camptodactyly ANESTHESIA: General plus 3 cc of 0.5% plain ropivacaine. Camptodactyly. Disease definition A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by global developmental delay, intellectual disability, macrothrombocytopenia, lymphedema, and dysmorphic facial features (like synophrys, ptosis, eversion of the lateral portion of the lower eyelid, and thin upper lip, among others). Skeletally mature - extension osteotomy / CaseReports II.4: mother of the proband, aged 82, had all four fingers ofthe right hand affected, also the left middle and ring fingers. Camptodactyly & Eclampsia Symptom Checker: Possible causes include Woodhouse-Sakati Syndrome. Poor outcomes especially loss of flexion - some series report only 35% success rate . Fetal Alcohol Syndrome (FAS) Most severe form of Fetal Alcohol Spectrum Disorders. Posteriorly rotated pinnae and a small mouth with a thin upper lip have been observed. Camptodactyly and tall stature with scoliosis and hearing loss syndrome; Camptodactyly syndrome Guadalajara type 1 (disorder) Camptodactyly syndrome Guadalajara type 2 (disorder) Camptodactyly taurinuria syndrome (disorder) Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome; Cap myopathy Go To Source: Orphanet Some have profound loss of muscle tone (hypotonia or floppiness), but some learn to walk and speak. bronchopulmonary dysplasia chronic lung disease of premature infants with hyaline membrane disease who have needed high concentrations of oxygen and assisted ventilation. It involves fixed flexion deformity of the proximal interphalangeal joints. Diabetes. Nonoperative and operative management have been proposed to treat camptodactyly, depending on its clinical severity. These diverse techniques range from splinting or stretching exercises to release of tendons, fascial bands, transfer of muscles, and tenotomy 10). Congenital anomalies comprise a wide range of abnormalities of body structure or function that are present at birth and are of prenatal origin. Patients with this syndrome experience early symptomatic arthropathy of the hips. Background: During whole genome microarray-based comparative genomic hybridisation (array CGH) screening of subjects with idiopathic intellectual disability, we identified two unrelated individuals with a similar de novo interstitial microdeletion at 2p15-2p16.1. PROCEDURES: 1. (b) T1-weighted brain magnetic resonance imaging (MRI) revealed cerebellar atrophy (c, saggittal slice and d, axial slice).Pedigree of the present family. A intellectual disability that is part of a larger syndrome. Intellectual Disability (ID) is a heterogeneous group of neurodevelopmental disorders, characterized by congenital limitation in intellectual functioning (intelligence quotient, IQ 70), and adaptive behavior. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry. Weaver syndrome is a condition that involves tall stature with or without a large head size (macrocephaly), a variable degree of intellectual disability (usually mild), and characteristic facial features.These features can include a broad forehead; widely spaced eyes (hypertelorism); large, low-set ears; a dimpled chin, and a small lower jaw (micrognathia). Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome is a rare disorder. He had a pectus deformity, sacral dimple, bilateral pes planus and a mild metatarsus adductus. Release of right long finger PIP contracture. Height +5 SD, Head circumference + 3 SD, Mild intellectual disability, Birth weight +1.5 SD, Hypertonia, Camptodactyly, Doughy skin, Umbilical hernia, Advanced bone age, Mitral valve prolapse, Cavum septum pellucidum, Clinodactyly Alcohol-Related Neurodevelopmental Disorder. Seizures occur in 44%-58% of affected individuals. Camptodactyly syndrome, Guadalajara type 3 is a rare, genetic bone development disorder characterized by hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with stricking pterygia, muscle sclerosis). Camptodactyly syndrome, Guadalajara type 3 is a rare, genetic bone development disorder characterized by hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with stricking pterygia, muscle sclerosis). Is Camptodactyly a disability? Beals syndrome, also known as congenital contractural arachnodactyly, is an extremely rare genetic disorder characterized by fixed flexion (contracture) of certain joints (e.g., fingers, elbows, knees, and hips); abnormally long, slender 6) stated that while patients who presented early with camptodactyly have an equal sex distribution, late-onset patients are mostly females. Other signs and symptoms may include hair loss, small or missing teeth, eye abnormalities that can lead to vision loss, and lined or pitted nails. Release of right long finger PIP contracture. Clinodactyly: An abnormally bent or curved finger. The structural change in DNA resulting in extra copies of a chromosome part is called a (n) _____. Syndromic camptodactyly often affects multiple fingers, and severe deformities are common compared to idiopathic camptodactyly. Camptodactyly also occurs as part of some 20 various multisystem disorders inherited as autosomal dominant, autosomal recessive, or X-linked conditions (5); none of these disorders has included synovitis as a manifestation. Megalocornea-intellectual disability syndrome is an extremely rare disorder that is characterized by distinctive abnormalities of the cornea of the eye (megalocornea) and varying degrees of cognitive impairment (intellectual disability). 1 Despite the relative ease of diagnosis, the pathogenesis and treatment of camptodactyly (both operative and non-operative) remain controversial. Technique . Philtrum is the central depression or the vertical groove between the nose and the upper lip. EZH2-Related Overgrowth: gene sequencing. A sister of this child was born 1 year later. 1.4 Congenital Anomalies - Definitions. Forty-nine cases of syndromic camptodactyly were Clinodactyly is a medical term describing the curvature of a digit (a finger or toe) in the plane of the palm, most commonly the fifth finger (the "little finger") towards the adjacent fourth finger (the "ring finger"). By using whole-exome sequencing, we confirmed MET p.Y1234C mutation to be responsible for arthrogryposis in this pedigree. Camptodactyly Syndrome, Guadalajara Type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies Dysmorphic features include flat face, epicanthic folds, telecanthus, small downturned mouth, small ears with attached lobule and abnormal dental eruption and occlusion. Both hands show mild camptodactyly of the digits and ulnar deviation of the wrists. CONGENITAL ANOMALIES (Birth defects) - . Camptodactyly syndrome, Guadalajara type 3 is a rare, genetic bone development disorder characterized by hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with stricking pterygia, muscle sclerosis). Talk to our Chatbot to narrow down your search. Camptodactyly and clinodactyly are common. Symptoms of the following disorders can be similar to those of Marfan syndrome. Cerebro oculo facio skeletal (COFS) syndrome is a pediatric, genetic, degenerative disorder that involves the brain and the spinal cord that begins before birth. Camera-Marugo-Cohen syndrome, also known as Obesity, mental retardation, body asymmetry and muscle weakness syndrome is a very rare genetic disorder which is characterized by familial obesity, intellectual disabilities, body asymmetry, and muscular weakness.It is a type of syndromic obesity/obesity syndrome.