autosomal recessive faciodigitogenital syndrome
ORPHA: 1974
Overview
Autosomal recessive facio-digito-genital syndrome is a very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum
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 autosomal recessive faciodigitogenital syndrome, sourced from HPO and Orphanet clinical annotations.
Joint hypermobilityBrachycephalyOverfolded helixProminent nasal bridgeShort footFrontal bossingShort statureOpen biteMicrognathiaWidow's peakUpslanted palpebral fissureHyperextensible skinCoarse hairHypopigmentation of hairDry hairShawl scrotumWide mouthHigh palateEverted lower lip vermilionLong faceHypertelorismTriangular faceLong philtrumPosteriorly rotated earsAnteverted naresLong neckTelecanthusLong palpebral fissureBrachydactylyDeep philtrumShort noseClinodactyly of the 5th fingerFinger syndactylyDown-sloping shoulders
Classification & Codes
Orphanet Code
ORPHA:1974autosomal recessive faciodigitogenital syndrome
| Orphanet | ORPHA:1974 |
| Treatments | 0 drug(s) |
| Symptoms on record | 34 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO