hypotrichosis-intellectual disability, Lopes type

ORPHA: 2266

Overview

Hypotrichosis-intellectual disability, Lopes type is characterised by hypotrichosis, syndactyly, intellectual deficit and early eruption of teeth. It has been described in two patients. The mode of transmission appears to be autosomal recessive.

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 hypotrichosis-intellectual disability, Lopes type, sourced from HPO and Orphanet clinical annotations.

Intellectual disability1-5 finger complete cutaneous syndactylyAdvanced eruption of teethSparse hair

Classification & Codes

Orphanet Code

ORPHA:2266
hypotrichosis-intellectual disability, Lopes type
OrphanetORPHA:2266
Treatments0 drug(s)
Symptoms on record4 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO