Meckel-Gruber syndrome

disorder

SNOMED 29076005CUI C0265215

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Bifid skull

Very frequent (80-99%)HP:0002084

Congenital hepatic fibrosis

Very frequent (80-99%)HP:0002612

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Fibular polydactyly

Very frequent (80-99%)HP:0001830

Multicystic kidney dysplasia

Very frequent (80-99%)HP:0000003

Postaxial hand polydactyly

Very frequent (80-99%)HP:0001162

Abnormal chorioretinal morphology

Frequent (30-79%)HP:0000532

Absent/small iris

Frequent (30-79%)HP:0008053

Ambiguous external genitalia

Frequent (30-79%)HP:0000062

Cataract

Frequent (30-79%)HP:0000518

Chubby cheeks

Frequent (30-79%)HP:0000293

Cleft of palate

Frequent (30-79%)HP:0000175

Cornea of eye less than 10mm in diameter

Frequent (30-79%)HP:0000482

Cryptorchidism

Frequent (30-79%)HP:0000028

Decreased amniotic fluid index

Frequent (30-79%)HP:0001562

Hardening of skin and connective tissue

Frequent (30-79%)HP:0000647

Hypoplastic mandible

Frequent (30-79%)HP:0000347

Increased distance between eyes

Frequent (30-79%)HP:0000316

Lobar holoprosencephaly

Frequent (30-79%)HP:0006870

Nanophthalmos

Frequent (30-79%)HP:0000568

Optic atrophy

Frequent (30-79%)HP:0000648

Posteriorly angulated ears

Frequent (30-79%)HP:0000358

Retruded nasal dorsum

Frequent (30-79%)HP:0000457

Sloping forehead

Frequent (30-79%)HP:0000340

Talipes

Frequent (30-79%)HP:0001883

Abnormality of cardiovascular system morphology

Occasional (5-29%)HP:0030680

Absence of eyeballs

Occasional (5-29%)HP:0000528

Absent spleen

Occasional (5-29%)HP:0001746

Absent urethral opening

Occasional (5-29%)HP:0000068

Accessory spleen

Occasional (5-29%)HP:0001747

Related Conditions

Multiple malformation syndrome with unusual brain and/or neuromuscular findings(parent)

Quick Facts

SNOMED CT: 29076005
UMLS CUI: C0265215
Fully Specified Name: Meckel-Gruber 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.