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GTR Home > Conditions/Phenotypes > Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome

Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome

Synonyms
SOFT SYNDROME; Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

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). [from OMIM]

Available tests

10 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (10 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: PIX2, SOFT, WDR51A, POC1A
    Summary: POC1 centriolar protein A

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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