Aphalangy and syndactyly with microcephaly syndrome

disorder

SNOMED 720498007CUI C4304033

Overview

Aphalangy and syndactyly with microcephaly syndrome is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Decreased body height

Very frequent (80-99%)HP:0004322

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Distal phalangeal hypoplasia

Very frequent (80-99%)HP:0009882

Hypoplasia/agenesis of distal phalanges of toes

Very frequent (80-99%)HP:0010185

Small fingernail

Very frequent (80-99%)HP:0001804

Abnormal metacarpal morphology

Frequent (30-79%)HP:0005916

Absent toenails (anonychia)

Frequent (30-79%)HP:0001802

Anonychia

Frequent (30-79%)HP:0001798

Foot ectrodactyly

Frequent (30-79%)HP:0001839

Hypoplastic toenails

Frequent (30-79%)HP:0001800

Posterior polydactyly of foot

Frequent (30-79%)HP:0001830

Proximal interphalangeal finger joint contractures

Frequent (30-79%)HP:0100490

Syndactyly of feet

Frequent (30-79%)HP:0001770

Related Conditions

Autosomal dominant hereditary disorder(parent)

Multiple malformation syndrome with limb defect as major feature(parent)

Adactyly(parent)

Syndactyly(parent)

Developmental hereditary disorder(parent)

Congenital microcephalus(parent)

Quick Facts

SNOMED CT: 720498007
UMLS CUI: C4304033
Fully Specified Name: Aphalangy and syndactyly with microcephaly syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 13

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.