trichorhinophalangeal syndrome type I

Term ID

DOID:14743

Synonyms

• Trichorhinophalangeal dysplasia type I
• trichorhinophalangeal syndrome type 1
• type I trichorhinophalangeal syndrome

Definition

A syndrome that is characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses (the growing ends of bones), as well as severe generalized shortening of all finger and toe bones (brachydactyly). (3)

References

• MESH:C536820
• NCI:C75109
• OMIM:190350
• ORDO:77258
• SNOMEDCT_US_2023_03_01:239016009
• UMLS_CUI:C0432233

Ontology

Human Disease   ( DOID:14743 )