trichorhinophalangeal syndrome type I
MeSH: C536820ORPHA: 77258
Overview
autosomal dominant disease 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)
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with trichorhinophalangeal syndrome type I, sourced from HPO and Orphanet clinical annotations.
Triangular faceLong philtrumMicrognathiaMacrotiaProtruding earBulbous noseSparse eyelashesFrontal bossingClinodactyly of the 5th fingerShort statureSparse hairShort distal phalanx of fingerShort metacarpalCone-shaped epiphysisShort metatarsalLong upper lipShortening of all phalanges of fingersSparse eyebrowAbnormality of the dentitionHigh palatePectus carinatumHypotoniaFragile nailsLeukonychiaScoliosisHyperlordosisAvascular necrosis of the capital femoral epiphysisSupernumerary toothCamptodactyly of finger
Classification & Codes
MeSH Code
C536820Orphanet Code
ORPHA:77258trichorhinophalangeal syndrome type I
| MeSH | C536820 |
| Orphanet | ORPHA:77258 |
| Treatments | 0 drug(s) |
| Symptoms on record | 29 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO