Short stature with craniofacial anomalies and genital hypoplasia syndrome

disorder

SNOMED 716090004CUI C1867443

Overview

Short stature with craniofacial anomalies and genital hypoplasia 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.

Hypotrophic malar bone

Always present (100%)HP:0000272

Protruding forehead

Always present (100%)HP:0011220

Abnormality of retina blood vessels

Very frequent (80-99%)HP:0008046

Decreased body height

Very frequent (80-99%)HP:0004322

Delayed puberty

Very frequent (80-99%)HP:0000823

Frontal protuberance

Very frequent (80-99%)HP:0002007

High-grade hypermetropia

Very frequent (80-99%)HP:0008499

Microtia

Very frequent (80-99%)HP:0008551

Nonprogressive mental retardation

Very frequent (80-99%)HP:0001249

Palpebronasal fold

Very frequent (80-99%)HP:0000286

Posteriorly angulated ears

Very frequent (80-99%)HP:0000358

Pseudoainhum

Very frequent (80-99%)HP:0009775

Retromicrognathia

Very frequent (80-99%)HP:0000308

Wedge shaped head

Very frequent (80-99%)HP:0000243

Abnormality of cardiovascular system morphology

Frequent (30-79%)HP:0030680

Arachnodactyly

Frequent (30-79%)HP:0001166

Cleft of palate

Frequent (30-79%)HP:0000175

Decreased size of cranium

Frequent (30-79%)HP:0000252

Dental anomalies

Frequent (30-79%)HP:0000164

Hypoplastic female external genitalia

Frequent (30-79%)HP:0012815

Hypothyroidism

Frequent (30-79%)HP:0000821

Increased distance between eyes

Frequent (30-79%)HP:0000316

Limitation of joint mobility

Frequent (30-79%)HP:0001376

Multiple pterygia

Frequent (30-79%)HP:0001040

Partial syndactyly

Frequent (30-79%)HP:0006101

Short neck

Frequent (30-79%)HP:0000470

Distal phalangeal hypoplasia

Occasional (5-29%)HP:0009882

Down-slanting palpebral fissure

Occasional (5-29%)HP:0000494

Ectopic anus

Occasional (5-29%)HP:0004397

Proximal interphalangeal finger joint contractures

Occasional (5-29%)HP:0100490

Related Conditions

Autosomal dominant hereditary disorder(parent)

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

Congenital malformation of genital organs(parent)

Small stature(parent)

Congenital abnormality of skull and face bones(parent)

Hereditary disorder of musculoskeletal system(parent)

Reproductive system hereditary disorder(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 716090004
UMLS CUI: C1867443
Fully Specified Name: Short stature with craniofacial anomalies and genital hypoplasia 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.