Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome

disorder

SNOMED 715533002CUI C1832440

Overview

Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism 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 size of cranium

Very frequent (80-99%)HP:0000252

Foot ectrodactyly

Very frequent (80-99%)HP:0001839

Increased size of mandible

Very frequent (80-99%)HP:0000303

Midline cleft lip

Very frequent (80-99%)HP:0000161

Nanophthalmos

Very frequent (80-99%)HP:0000568

Nonprogressive mental retardation

Very frequent (80-99%)HP:0001249

Oral cleft

Very frequent (80-99%)HP:0000202

Cryptorchidism

Frequent (30-79%)HP:0000028

Impaired vision

Frequent (30-79%)HP:0000505

Triphalangy of thumb

Frequent (30-79%)HP:0001199

VSD

Occasional (5-29%)HP:0001629

Blepharophimosis

HP:0000581

Cleft of palate

HP:0000175

Cleft of upper lip

HP:0000204

Cornea of eye less than 10mm in diameter

HP:0000482

Premature skin wrinkling

HP:0100678

Short palpebral fissure

HP:0012745

Wide gap between upper central incisors

HP:0001566

Related Conditions

Microphthalmos(parent)

Congenital prognathism(parent)

Ectrodactyly(parent)

Congenital microcephalus(parent)

Genetic disease(parent)

Quick Facts

SNOMED CT: 715533002
UMLS CUI: C1832440
Fully Specified Name: Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 18

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.