Zimmermann-Laband syndrome

disorder

SNOMED 699447001CUI C0796013

Overview

Zimmermann-Laband 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.

Gingival fibromatosis

Always present (100%)HP:0000169

Mental retardation, severe

Always present (100%)HP:0010864

Oral soft tissue hyperplasia

Very frequent (80-99%)HP:0000212

Peripheral hypotonia

Very frequent (80-99%)HP:0001252

Anonychia

Frequent (30-79%)HP:0001798

Anonychia of fingernails

Frequent (30-79%)HP:0001817

Anterior open bite between upper and lower teeth

Frequent (30-79%)HP:0009102

Bulbous nose

Frequent (30-79%)HP:0000414

Coarse face

Frequent (30-79%)HP:0000280

Cobb angle greater than ten degrees

Frequent (30-79%)HP:0002650

Distal phalangeal hypoplasia

Frequent (30-79%)HP:0009882

Gastroesophageal reflux disease

Frequent (30-79%)HP:0002020

Generalized hypertrichosis

Frequent (30-79%)HP:0004554

Hirsutism

Frequent (30-79%)HP:0001007

Increased length of philtrum

Frequent (30-79%)HP:0000343

Increased nasal width

Frequent (30-79%)HP:0000445

Joint ligamentous laxity

Frequent (30-79%)HP:0001382

Large fleshy ears

Frequent (30-79%)HP:0002265

Large mouth

Frequent (30-79%)HP:0000154

Poor school performance

Frequent (30-79%)HP:0001249

Prominent lips

Frequent (30-79%)HP:0012471

Short distal phalanx of toe

Frequent (30-79%)HP:0001857

Small fingernail

Frequent (30-79%)HP:0001804

Small nail

Frequent (30-79%)HP:0001792

Thick hair

Frequent (30-79%)HP:0100874

Thick, flared eyebrows

Frequent (30-79%)HP:0002553

Thickened ears

Frequent (30-79%)HP:0009894

Abnormal external genitalia morphology

Occasional (5-29%)HP:0000811

Abnormality of cardiovascular system morphology

Occasional (5-29%)HP:0030680

Big cheeks

Occasional (5-29%)HP:0000293

Related Conditions

Autosomal dominant hereditary disorder(parent)

Quick Facts

SNOMED CT: 699447001
UMLS CUI: C0796013
Fully Specified Name: Zimmermann-Laband 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.