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aphalangy-syndactyly-microcephaly syndrome

MeSH: C563942ORPHA: 1113

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

Aphalangy-syndactyly-microcephaly is an extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability

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 aphalangy-syndactyly-microcephaly syndrome, sourced from HPO and Orphanet clinical annotations.

MicrocephalyHypoplastic fingernailShort statureShort distal phalanx of fingerAplasia/Hypoplasia of the distal phalanges of the toesToe syndactylyAnonychiaHypoplastic toenailsAbsent toenailPostaxial foot polydactylySplit footAbnormal metacarpal morphologyCamptodactyly of finger

Classification & Codes

MeSH Code

C563942

Orphanet Code

ORPHA:1113
aphalangy-syndactyly-microcephaly syndrome
MeSHC563942
OrphanetORPHA:1113
Treatments0 drug(s)
Symptoms on record13 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO