Autosomal recessive facio-digito-genital syndrome

disorder

SNOMED 725434009CUI C1856871

Overview

Autosomal recessive facio-digito-genital 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.

Brachydactyly

Very frequent (80-99%)HP:0001156

Curvature of little finger

Very frequent (80-99%)HP:0004209

High arched palate

Very frequent (80-99%)HP:0000218

Increased cervical length

Very frequent (80-99%)HP:0000472

Increased distance between eyes

Very frequent (80-99%)HP:0000316

Increased intercanthal distance

Very frequent (80-99%)HP:0000506

Increased length of philtrum

Very frequent (80-99%)HP:0000343

Inverted triangular face

Very frequent (80-99%)HP:0000325

Joint ligamentous laxity

Very frequent (80-99%)HP:0001382

Large mouth

Very frequent (80-99%)HP:0000154

Nostrils anteverted

Very frequent (80-99%)HP:0000463

Partial syndactyly

Very frequent (80-99%)HP:0006101

Posteriorly angulated ears

Very frequent (80-99%)HP:0000358

Prominent philtrum

Very frequent (80-99%)HP:0002002

Protruding lower lip

Very frequent (80-99%)HP:0000232

Shawl scrotum

Very frequent (80-99%)HP:0000049

Sloping shoulders

Very frequent (80-99%)HP:0200021

Vertical enlargement of face

Very frequent (80-99%)HP:0000276

Wide palpebral fissure

Very frequent (80-99%)HP:0000637

Decreased body height

Frequent (30-79%)HP:0004322

Frontal protuberance

Frequent (30-79%)HP:0002007

Open bite

Frequent (30-79%)HP:0010807

Overfolded helix

Frequent (30-79%)HP:0000396

Prominent nasal root

Frequent (30-79%)HP:0000426

Small feet

Frequent (30-79%)HP:0001773

Wide cranium shape

Frequent (30-79%)HP:0000248

Congenitally fused vertebrae

Occasional (5-29%)HP:0002948

Dry hair

Occasional (5-29%)HP:0011359

Dull intelligence

Occasional (5-29%)HP:0001249

Frequent urination

Occasional (5-29%)HP:0100515

Related Conditions

Multiple malformation syndrome with facial-limb defects as major feature(parent)

Recessive hereditary disorder (autosomal)(parent)

Genitourinary congenital anomalies(parent)

Hereditary disorder by system(parent)

Congenital anomaly of digit(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 725434009
UMLS CUI: C1856871
Fully Specified Name: Autosomal recessive faciodigitogenital syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

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.