Thumb deformity, alopecia, pigmentation anomaly syndrome

disorder

SNOMED 771182002CUI C1861168

Overview

Thumb deformity, alopecia, pigmentation anomaly 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.

Hair loss

Very frequent (80-99%)HP:0001596

Hypotrichosis

Very frequent (80-99%)HP:0008070

Melanoderma

Very frequent (80-99%)HP:0000953

Short stature, severe

Very frequent (80-99%)HP:0003510

Thumb hypoplasia

Very frequent (80-99%)HP:0009778

Cognitive delay

Frequent (30-79%)HP:0001263

Difficulty finding words

Frequent (30-79%)HP:0002381

Dysplastic fingernails

Frequent (30-79%)HP:0100798

Echologia

Frequent (30-79%)HP:0010529

Hives

Frequent (30-79%)HP:0001025

Hypopigmented skin patches

Frequent (30-79%)HP:0001053

Keratoderma

Frequent (30-79%)HP:0000982

Mental-retardation

Frequent (30-79%)HP:0001249

Misshapened teeth

Frequent (30-79%)HP:0006482

Mutism

Frequent (30-79%)HP:0002300

Onychogryphosis of fingernail

Frequent (30-79%)HP:0040036

Prominent ear

Frequent (30-79%)HP:0000411

Protruding lower lip

Frequent (30-79%)HP:0000232

Proximal interphalangeal finger joint contractures

Frequent (30-79%)HP:0100490

Ridged fingernails

Frequent (30-79%)HP:0008402

Specific learning disability

Frequent (30-79%)HP:0001328

Triphalangy of thumb

Frequent (30-79%)HP:0001199

Partial syndactyly

Occasional (5-29%)HP:0006101

Decreased body height

HP:0004322

Increased groin pigmentation with raindrop depigmentation

HP:0007450

Single median incisor

HP:0006315

Related Conditions

Congenital alopecia(parent)

Hypoplastic thumb(parent)

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

Autosomal dominant hereditary disorder(parent)

Inherited cutaneous hyperpigmentation(parent)

Small stature(parent)

Quick Facts

SNOMED CT: 771182002
UMLS CUI: C1861168
Fully Specified Name: Thumb deformity, alopecia, pigmentation anomaly syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 26

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.