intellectual disability-facial dysmorphism-hand anomalies syndrome
ORPHA: 370010
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 intellectual disability-facial dysmorphism-hand anomalies syndrome, sourced from HPO and Orphanet clinical annotations.
Thin upper lip vermilionBroad nasal tipDelayed speech and language developmentSpecific learning disabilityModerate intellectual disabilityBroad chinShort palpebral fissureMicrocephalyFacial grimacingRecurrent otitis mediaSingle transverse palmar creaseBrachydactylyGait disturbanceHypoplastic toenailsShort toeAbnormal scalp morphologyPoor speechUpper limb muscle weaknessShort statureCervical C2/C3 vertebral fusionBifid distal phalanx of the thumbCurved distal phalanx of the thumbTriangular shaped distal phalanx of the thumbShort distal phalanx of the thumbShort thumbShort distal phalanx of fingerShort 3rd metacarpalShort 5th metacarpalOsseous finger syndactylyBroad thumb3-4 finger cutaneous syndactylyHypoplastic thumbnailModerate hearing impairmentOverweight
Classification & Codes
Orphanet Code
ORPHA:370010intellectual disability-facial dysmorphism-hand anomalies syndrome
| Orphanet | ORPHA:370010 |
| Treatments | 0 drug(s) |
| Symptoms on record | 34 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO