Brachytelephalangy, facial dysmorphism, Kallmann syndrome

disorder

SNOMED 720574003CUI C4303989

Overview

Brachytelephalangy, facial dysmorphism, Kallmann 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.

Abnormal metacarpal morphology

Very frequent (80-99%)HP:0005916

Aplastic/hypoplastic toenails

Very frequent (80-99%)HP:0010624

Brachydactyly

Very frequent (80-99%)HP:0001156

Decreased volume of upper lip

Very frequent (80-99%)HP:0000219

Deformity of the nostrils

Very frequent (80-99%)HP:0005288

Depressed cheekbone

Very frequent (80-99%)HP:0010669

Distal phalangeal hypoplasia

Very frequent (80-99%)HP:0009882

Hypopigmented skin patches

Very frequent (80-99%)HP:0001053

Increased distance between eyes

Very frequent (80-99%)HP:0000316

Increased intercanthal distance

Very frequent (80-99%)HP:0000506

Increased width of the forehead

Very frequent (80-99%)HP:0000337

Nasal hypoplasia

Very frequent (80-99%)HP:0003196

Genu valga

Frequent (30-79%)HP:0002857

Hypoplasia of penis

Frequent (30-79%)HP:0008736

Lost smell

Frequent (30-79%)HP:0000458

Low gonadotropins (secondary hypogonadism)

Frequent (30-79%)HP:0000044

Scrotal cleft

Frequent (30-79%)HP:0000048

Stiff joint

Frequent (30-79%)HP:0001387

Unibrow

Frequent (30-79%)HP:0000664

Related Conditions

Autosomal dominant hereditary disorder(parent)

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

Small stature(parent)

Congenital anomaly of digit(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 720574003
UMLS CUI: C4303989
Fully Specified Name: Brachytelephalangy, facial dysmorphism, Kallmann syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 19

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.