Tarsal and carpal coalition and symphalangism of the Fuhrmann type. Report of a family.

Drawbert, John; Stevens, Dave; Cadle, Ronald G.; Hall, Bertil

doi:10.2106/00004623-198567060-00010

Cited by 33 publications

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“…All of these findings are characteristics of TCC, SYM1, or SYNS1. 2,7,8 In contrast to SYM1 and SYNS1, conductive hearing is typically normal in individuals with TCC and fusion of the MP joints is uncommon. SYNS1 is differentiated from SYM1 by consistent involvement of the hips and cervical spine.…”

Section: Discussionmentioning

confidence: 99%

“…The clinical characteristics of many of the affected members of family K1 have been described previously. 2 All affected individuals have normal stature and intelligence. One affected individual has a conductive hearing loss caused by absence of the meatus of the auditory canal of each ear.…”

Section: Clinical Evaluationmentioning

confidence: 99%

“…Height, facial characteristics, and intelligence are normal. Penetrance of the gene appears to be complete, and the clinical findings are similar among males and females.We collected phenotypic data and biological materials from members of a family with TCC of the "Fuhrmann type" that had been previously reported by Drawbert et al 2 An updated pedigree revealed that 17 individuals in this family (K1) are affected. Data were also collected from two additional unrelated families (K2 and K3) with TCC.…”

mentioning

confidence: 99%

“…Tarsal/carpal coalition syndrome (TCC; OMIM 186570) is an autosomal dominant disorder characterized by fusion of the carpals, tarsals, and phalanges; short first metacarpals causing brachydactyly; and humeroradial fusion. 1,2 At birth, all affected individuals have stiffness of the proximal interphalangeal (PIP) joint of the 5th digit with or without bony synostosis. Over time, the distal end of the proximal phalanx and the proximal end of the middle phalanx fuse.…”

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confidence: 99%

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Identical mutations in NOG can cause either tarsal/carpal coalition syndrome or proximal symphalangism

Dixon

Armstrong

Stevens

et al. 2001

Genetics in Medicine

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Purpose: To identify the gene causing tarsal/carpal coalition syndrome (TCC). Methods: Individuals from three kindreds with TCC and normal hearing were used to map TCC and screen for mutations in Noggin (NOG). Results: Three different missense mutations in NOG were found. Two of these mutations are identical to mutations previously reported to cause proximal symphalangism (SYM1). Conclusions: TCC is allelic to SYM1, and at least two different mutations in NOG can result in either TCC or SYM1 in different families. This finding suggests that phenotypic differences between these conditions are caused by epistatic modifiers of NOG. Genet Med 2001:3(5):349 -353. Key Words: tarsal/carpal coalition syndrome, symphalangism, NogginThe genetic analysis of human malformation syndromes characterized by disturbances of skeletal development provides important insights about the control of bone growth and maintenance. Tarsal/carpal coalition syndrome (TCC; OMIM 186570) is an autosomal dominant disorder characterized by fusion of the carpals, tarsals, and phalanges; short first metacarpals causing brachydactyly; and humeroradial fusion. 1,2 At birth, all affected individuals have stiffness of the proximal interphalangeal (PIP) joint of the 5th digit with or without bony synostosis. Over time, the distal end of the proximal phalanx and the proximal end of the middle phalanx fuse. As an individual ages, progressive fusion of the PIP joints of digits 4, 3, and 2 proceeds sequentially (Fig. 1). The distal interphalangeal joints are affected less commonly. Humeroradial fusion is not present in infancy but can be noted shortly thereafter. Abnormalities of the elbow are the most variable feature.The most substantial disabilities suffered by individuals with TCC are caused by the abnormalities of the ankle and foot. Often, ambulating is painful and difficult, necessitating palliative and/or corrective surgical intervention. Height, facial characteristics, and intelligence are normal. Penetrance of the gene appears to be complete, and the clinical findings are similar among males and females.We collected phenotypic data and biological materials from members of a family with TCC of the "Fuhrmann type" that had been previously reported by Drawbert et al. 2 An updated pedigree revealed that 17 individuals in this family (K1) are affected. Data were also collected from two additional unrelated families (K2 and K3) with TCC. METHODS Clinical evaluationAll studies were performed with the approval of the Institutional Review Board of the University of Utah and the General Counsel of the Shriners Hospitals for Children. After obtaining informed consent, each participant was evaluated by history and physical examination and/or review of medical records. Radiographs were performed on all individuals. Individuals in three unrelated families in which TCC was segregating in an autosomal dominant pattern were selected for linkage studies and mutation analysis. Twelve of 13 living affected individuals in family K1 and all 6 living affected individual...

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Section: Discussionmentioning

confidence: 99%

Section: Clinical Evaluationmentioning

confidence: 99%

mentioning

confidence: 99%

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confidence: 99%

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Identical mutations in NOG can cause either tarsal/carpal coalition syndrome or proximal symphalangism

Dixon

Armstrong

Stevens

et al. 2001

Genetics in Medicine

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“…This gene encodes a secreted protein, noggin, a bone morphogenetic protein antagonist essential for normal bone and joint development in humans and mice. 3 NOG gene mutations leading to aberrant functions of the noggin protein have been found in some syndromes involving digital anomalies, including SYM1, 1 multiple synostosis syndrome (SYNS1), 4 facioaudiosymphalangism, 5 tarsal-carpal coalition syndrome, 6,7 stapes ankylosis with broad thumb and toes (SABTT) 8 and brachydactyly type B2. 9 Because these syndromes share several overlapping features, it is sometimes difficult to reach an exact diagnosis.…”

Section: Introductionmentioning

confidence: 99%

Identification of two novel mutations in the NOG gene associated with congenital stapes ankylosis and symphalangism

et al. 2014

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In this study, we describe three unrelated Japanese patients with hearing loss and symphalangism who were diagnosed with proximal symphalangism (SYM1), atypical multiple synostosis syndrome (atypical SYNS1) and stapes ankylosis with broad thumb and toes (SABTT), respectively, based on the clinical features. Surgical findings in the middle ear were similar among the patients. By next-generation and Sanger sequencing analyses, we identified two novel mutations, c.559C>G (p.P178A) and c.682T>A (p.C228S), in the SYM1 and atypical SYNS1 families, respectively. No pathogenic changes were found in the protein-coding regions, exon-intron boundaries or promoter regions of the NOG, GDF5 or FGF9 genes in the SABTT family. Such negative molecular data suggest there may be further genetic heterogeneity underlying SYNS1, with the involvement of at least one additional gene. Stapedotomy resulted in good hearing in all patients over the long term, indicating no correlation between genotype and surgical outcome. Given the overlap of the clinical features of these syndromes in our patients and the molecular findings, the diagnostic term 'NOG-related-symphalangism spectrum disorder (NOG-SSD)' is advocated and an unidentified gene may be responsible for this disorder.

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Herrmann multiple synostosis syndrome with neurological complications caused by spinal canal stenosis

2000

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A young man was found to have multiple synostosis syndrome type I after presenting with a neck injury causing a cervical spinal cord contusion. Neurological symptoms and signs suggested spinal cord compression. Magnetic resonance (MR) and computerized tomography (CT) imaging of the spine showed spinal canal stenosis with cord compression at C3-C6, a deformed spinal canal flattened in the anteroposterior dimension, vertebral fusions and deformed lateral processes of the vertebrae. He had a long broad nose with hypoplasia of the alae nasi, conductive hearing loss requiring hearing aids, muscular build, stiff spine, prominent acromia, pectus excavatum, ischial prominences, short fifth fingers, fusion at the proximal interphalangeal joints of the fifth fingers with indistinct overlying creases, and toe syndactyly. Spinal cord stenosis is a serious complication of multiple synostosis syndrome, that should be kept in mind in considering the risk of neck or back injury associated with certain sports or other activities. In both the multiple synostosis syndrome and the less severe proximal symphalangism deafness syndrome, mutations have been detected in the human homologue of the noggin gene on chromosome 17q21-q22.

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Tarsal and carpal coalition and symphalangism of the Fuhrmann type. Report of a family.

Cited by 33 publications

References 0 publications

Identical mutations in NOG can cause either tarsal/carpal coalition syndrome or proximal symphalangism

Identical mutations in NOG can cause either tarsal/carpal coalition syndrome or proximal symphalangism

Identification of two novel mutations in the NOG gene associated with congenital stapes ankylosis and symphalangism

Herrmann multiple synostosis syndrome with neurological complications caused by spinal canal stenosis

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