Dysmorphism, short stature, deafness, pseudohermaphroditism syndrome

disorder

SNOMED 733050004CUI C4518561

Overview

Dysmorphism, short stature, deafness, pseudohermaphroditism 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

Frequent (30-79%)HP:0004322

Decreased projection of mandible

Frequent (30-79%)HP:0000347

Decreased size of cranium

Frequent (30-79%)HP:0000252

Feeding difficulties

Frequent (30-79%)HP:0011968

Generalised decreased muscle tone

Frequent (30-79%)HP:0001290

Hyperactive deep tendon reflexes

Frequent (30-79%)HP:0006801

Hypoacusis

Frequent (30-79%)HP:0000365

Hypoxia

Frequent (30-79%)HP:0012418

Increased distance between eyes

Frequent (30-79%)HP:0000316

Increased width of bridge of nose

Frequent (30-79%)HP:0000431

Mental retardation, severe

Frequent (30-79%)HP:0010864

Microtia

Frequent (30-79%)HP:0008551

Nasal hypoplasia

Frequent (30-79%)HP:0003196

Nostrils anteverted

Frequent (30-79%)HP:0000463

PDA

Frequent (30-79%)HP:0001643

Pulmonary artery hypertension

Frequent (30-79%)HP:0002092

respiratory infections, recurrent

Frequent (30-79%)HP:0002205

Small for gestational age infant

Frequent (30-79%)HP:0001511

Thick, flared eyebrows

Frequent (30-79%)HP:0002553

Unbalanced face

Frequent (30-79%)HP:0000324

Cleft soft palate

Occasional (5-29%)HP:0000185

Cryptorchidism

Occasional (5-29%)HP:0000028

Eyelid ptosis

Occasional (5-29%)HP:0000508

Hypospadias

Occasional (5-29%)HP:0000047

Male pseudohermaphroditism

Occasional (5-29%)HP:0000037

Shawl scrotum

Occasional (5-29%)HP:0000049

Short neck

Occasional (5-29%)HP:0000470

Short penis

Occasional (5-29%)HP:0000054

Skeletal anomalies

Occasional (5-29%)HP:0000924

Submucous cleft velum

Occasional (5-29%)HP:0011819

Related Conditions

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

Pseudohermaphroditism(parent)

Recessive hereditary disorder (autosomal)(parent)

Hearing loss associated with syndrome(parent)

Small stature(parent)

Reproductive system hereditary disorder(parent)

Developmental hereditary disorder(parent)

Genetic intellectual disability(parent)

Hereditary hearing loss(parent)

Quick Facts

SNOMED CT: 733050004
UMLS CUI: C4518561
Fully Specified Name: Dysmorphism, short stature, deafness, disorder of sex development 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.