Intellectual disability and short stature with hand contracture and genital anomaly syndrome

disorder

SNOMED 716334004CUI C0796189

Overview

Intellectual disability and short stature with hand contracture and genital anomaly 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.

Contractures of the toes

Very frequent (80-99%)HP:0005830

Decreased activity of gonads

Very frequent (80-99%)HP:0000135

Frequent fractures

Very frequent (80-99%)HP:0002757

High immunoglobulin E

Very frequent (80-99%)HP:0003212

Hypoplasia of penis

Very frequent (80-99%)HP:0008736

Obesity

Very frequent (80-99%)HP:0001513

Osteoporosis

Very frequent (80-99%)HP:0000939

Poor school performance

Very frequent (80-99%)HP:0001249

Proximal interphalangeal finger joint contractures

Very frequent (80-99%)HP:0100490

Abnormal shape of shaft of long bone

Frequent (30-79%)HP:0000940

Anomaly of the epiphyses

Frequent (30-79%)HP:0005930

Bilateral fifth digit clinodactyly

Frequent (30-79%)HP:0004209

Brachydactyly

Frequent (30-79%)HP:0001156

Convex bridge of nose

Frequent (30-79%)HP:0000426

Cryptorchidism

Frequent (30-79%)HP:0000028

Decreased body height

Frequent (30-79%)HP:0004322

Hunched back

Frequent (30-79%)HP:0002808

Mongoloid slant

Frequent (30-79%)HP:0000582

Overfolded helix

Frequent (30-79%)HP:0000396

Palpebronasal fold

Frequent (30-79%)HP:0000286

Short neck

Frequent (30-79%)HP:0000470

Small feet

Frequent (30-79%)HP:0001773

Squint

Frequent (30-79%)HP:0000486

Syndactyly of feet

Frequent (30-79%)HP:0001770

Abnormality of the philtrum

Occasional (5-29%)HP:0000288

Abnormality of the ureter

Occasional (5-29%)HP:0000069

Absent/underdeveloped ear lobes

Occasional (5-29%)HP:0009906

Decreased projection of lower jaw

Occasional (5-29%)HP:0000347

Related Conditions

Multiple malformation syndrome with limb defect as major feature(parent)

Recessive hereditary disorder (autosomal)(parent)

Congenital malformation of genital organs(parent)

Small stature(parent)

Reproductive system hereditary disorder(parent)

Developmental hereditary disorder(parent)

Osteopenia(parent)

Hereditary disorder of musculoskeletal system(parent)

Congenital anomaly of skeletal bone(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 716334004
UMLS CUI: C0796189
Fully Specified Name: Intellectual disability and short stature with hand contracture and genital anomaly 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.