Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis (SOFT)

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OMIM 57 614813 Orphanet 59 ORPHA314394 ICD10 via Orphanet 34 Q87.1 MedGen 42 C3542022 CN143712

MeSH 44 D004392 D007039 D009260 ICD10 33 M79.9 SNOMED-CT via HPO 69 258211005 422775003 271611007 109504005 22810007 194021007 22006008 249311009 246923005 80093006 73211009 43476002 224958001 267258002 276610007 51406002 11375002 609225004 271706000 8915006 35045004 17268007 299032009 more UMLS 73 C3542022

UniProtKB/Swiss-Prot : ⁷⁵ Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis: A syndrome characterized by severely short long bones, peculiar facies associated with paucity of hair, and nail anomalies. Growth retardation is evident on prenatal ultrasound as early as the second trimester of pregnancy, and affected individuals reach a final stature consistent with a height age of 6 years to 8 years. Relative macrocephaly is present during early childhood but head circumference is markedly low by adulthood. Psychomotor development is normal. Facial dysmorphism includes a long, triangular face with prominent nose and small ears, and affected individuals have an unusual high- pitched voice. Clinodactyly, brachydactyly, and hypoplastic distal phalanges and fingernails are present in association with postpubertal sparse and short hair. Typical skeletal findings include short and thick long bones with mild irregular metaphyseal changes, short femoral necks, and hypoplastic pelvis and sacrum. All long bones of the hand are short, with major delay of carpal ossification and cone- shaped epiphyses. Vertebral body ossification is also delayed.

MalaCards based summary : Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis, also known as soft syndrome, is related to alveolar soft part sarcoma and soft tissue sarcoma, and has symptoms including waddling gait An important gene associated with Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis is POC1A (POC1 Centriolar Protein A). Affiliated tissues include bone, eye and skin, and related phenotypes are macrocephaly and hypertelorism

OMIM : ⁵⁷ SOFT syndrome is characterized by severely short long bones, peculiar facies associated with paucity of hair, and nail anomalies. Growth retardation is evident on prenatal ultrasound as early as the second trimester of pregnancy, and affected individuals reach a final stature consistent with a height age of 6 years to 8 years. Relative macrocephaly is present during early childhood but head circumference is markedly low by adulthood. Psychomotor development is normal. Facial dysmorphism includes a long, triangular face with prominent nose and small ears, and affected individuals have an unusual high-pitched voice. Clinodactyly, brachydactyly, and hypoplastic distal phalanges and fingernails are present in association with postpubertal sparse and short hair. Typical skeletal findings include short and thick long bones with mild irregular metaphyseal changes, short femoral necks, and hypoplastic pelvis and sacrum. All long bones of the hand are short, with major delay of carpal ossification and cone-shaped epiphyses. Vertebral body ossification is also delayed (summary by Sarig et al., 2012). (614813)

Clinical features from OMIM:

614813

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