Distal limb deficiency with micrognathia syndrome

disorder

SNOMED 722429003CUI C4302673

Overview

Distal limb deficiency with micrognathia 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

Abnormality of chromosome segregation

Very frequent (80-99%)HP:0002916

Abnormality of the ankle

Very frequent (80-99%)HP:0003028

Oligodactyly

Very frequent (80-99%)HP:0012165

Posteriorly angulated ears

Very frequent (80-99%)HP:0000358

Retromicrognathia

Very frequent (80-99%)HP:0000308

Small upper jaw

Very frequent (80-99%)HP:0000327

Abnormality of the wrist

Frequent (30-79%)HP:0003019

Absent/underdeveloped radius

Frequent (30-79%)HP:0006501

Aplastic/hypoplastic thumbs

Frequent (30-79%)HP:0009601

Cryptorchidism

Frequent (30-79%)HP:0000028

Hearing loss, conductive

Frequent (30-79%)HP:0000405

High arched palate

Frequent (30-79%)HP:0000218

Moderate mental retardation

Frequent (30-79%)HP:0002342

Narrow mouth

Frequent (30-79%)HP:0000160

Near sighted

Frequent (30-79%)HP:0000545

Proteinuria

Frequent (30-79%)HP:0000093

Renal insufficiency

Frequent (30-79%)HP:0000083

Small kidneys

Frequent (30-79%)HP:0000089

Abnormal morphology of ulna

Occasional (5-29%)HP:0040071

Cleft of palate

Occasional (5-29%)HP:0000175

Convex bridge of nose

Occasional (5-29%)HP:0000426

Decreased body height

Occasional (5-29%)HP:0004322

Decreased size of tongue

Occasional (5-29%)HP:0000171

Decreased width of tooth

Occasional (5-29%)HP:0000691

Foot ectrodactyly

Occasional (5-29%)HP:0001839

Increased size of skull

Occasional (5-29%)HP:0000256

Involuntary, rapid, rhythmic eye movements

Occasional (5-29%)HP:0000639

Sensorineural deafness

Occasional (5-29%)HP:0000407

Tarsal bone synostosis

Occasional (5-29%)HP:0008368

Related Conditions

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

Congenital micrognathism(parent)

Longitudinal deficiency of limb(parent)

10q partial trisomy syndrome(parent)

Recessive hereditary disorder (autosomal)(parent)

Hereditary disorder of musculoskeletal system(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 722429003
UMLS CUI: C4302673
Fully Specified Name: Distal limb deficiency with micrognathia 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.