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

External Ids:

OMIM 58 614813 MeSH 45 D004392 D007039 D009260 ICD10 34 M79.9 ICD10 via Orphanet 35 Q87.1

Orphanet 60 ORPHA314394 MedGen 43 C3542022 CN143712 SNOMED-CT via HPO 70 109504005 11375002 17268007 194021007 22006008 224958001 22810007 246923005 249311009 258211005 267258002 271611007 271706000 276610007 299032009 35045004 422775003 43476002 51406002 609225004 73211009 80093006 8915006 more UMLS 74 C3542022

UniProtKB/Swiss-Prot : ⁷⁶ 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, skin and liver, and related phenotypes are hypertelorism and diabetes mellitus

OMIM : ⁵⁸ 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

Search Clinical Trials , NIH Clinical Center for Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis

Search GEO for disease gene expression data for Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis.