Temtamy preaxial brachydactyly syndrome
MeSH: C536958ORPHA: 363417
Overview
human disease
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 Temtamy preaxial brachydactyly syndrome, sourced from HPO and Orphanet clinical annotations.
Duplication of thumb phalanxAbnormal digit morphologyAbnormality of the dentitionHypodontiaAbnormally large globeBrachydactylyIntellectual disabilityGlobal developmental delayGrowth delayWidely-spaced maxillary central incisorsAbnormal facial shapeProximal finger symphalangismSevere sensorineural hearing impairmentComplete duplication of proximal phalanx of the thumbPartial duplication of thumb phalanxComplete duplication of the middle phalanx of the 3rd fingerPartial duplication of the proximal phalanx of the 3rd fingerTalon cuspSynostosis of carpals/tarsalsNarrow mouthRound faceHypoplasia of the maxillaMicrognathiaLow-set earsAbnormal lens morphologyBlue scleraeOptic atrophyOligodontiaMicrodontiaTooth malpositionSpecific learning disabilityShort footPoor speechShort noseClinodactyly of the 5th fingerShort palmShort statureProximal radio-ulnar synostosisTarsal synostosisRadial deviation of fingerShort halluxCutaneous finger syndactylyAbnormality of canineAbnormal optic disc morphologyClinodactyly of the 2nd fingerAbnormal spaced incisorsTibial deviation of the 2nd toeTibial deviation of the 5th toe
Classification & Codes
MeSH Code
C536958Orphanet Code
ORPHA:363417Temtamy preaxial brachydactyly syndrome
| MeSH | C536958 |
| Orphanet | ORPHA:363417 |
| Treatments | 0 drug(s) |
| Symptoms on record | 48 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO