Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome

disorder

SNOMED 721086004CUI C2931654

Overview

Deafness, genital anomaly, metacarpal and metatarsal synostosis 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 dermatoglyphics

Very frequent (80-99%)HP:0007477

Abnormal metacarpal morphology

Very frequent (80-99%)HP:0005916

Abnormal nasal morphology

Very frequent (80-99%)HP:0005105

Abnormality of the cerebellar vermis

Very frequent (80-99%)HP:0002334

Cavus foot

Very frequent (80-99%)HP:0001761

Cerebral cortex atrophy

Very frequent (80-99%)HP:0002120

Dilated cerebral ventricle

Very frequent (80-99%)HP:0002119

Hypospadias

Very frequent (80-99%)HP:0000047

Low-set ears

Very frequent (80-99%)HP:0000369

Nonprogressive mental retardation

Very frequent (80-99%)HP:0001249

Posteriorly angulated ears

Very frequent (80-99%)HP:0000358

Prominent ear

Very frequent (80-99%)HP:0000411

Protruding forehead

Very frequent (80-99%)HP:0011220

Sensorineural deafness

Very frequent (80-99%)HP:0000407

Small cerebellum

Very frequent (80-99%)HP:0001321

Unbalanced face

Very frequent (80-99%)HP:0000324

Abnormal vocalization

Frequent (30-79%)HP:0002167

Accessory nipples

Frequent (30-79%)HP:0002558

Corpus callosum abnormality

Frequent (30-79%)HP:0001273

Hair loss

Frequent (30-79%)HP:0001596

Increased distance between eyes

Frequent (30-79%)HP:0000316

Multiple vertebral anomalies

Frequent (30-79%)HP:0003468

Palpebronasal fold

Frequent (30-79%)HP:0000286

Partial syndactyly

Frequent (30-79%)HP:0006101

Short hallux

Frequent (30-79%)HP:0010109

Syndactyly of feet

Frequent (30-79%)HP:0001770

Tooth abnormalities

Frequent (30-79%)HP:0000164

Truncal obesity

Frequent (30-79%)HP:0001956

Related Conditions

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

Sensorineural hearing loss(parent)

Skeletal dysplasia(parent)

Congenital anomaly of metatarsal bone(parent)

Congenital anomaly of metacarpal bone(parent)

Congenital malformation of genital organs(parent)

Hearing loss associated with syndrome(parent)

Congenital dysplasia of lower extremity(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 721086004
UMLS CUI: C2931654
Fully Specified Name: Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 28

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.