Macrocephaly, alopecia, cutis laxa, scoliosis syndrome

disorder

SNOMED 723367005CUI C2751321

Overview

Macrocephaly, alopecia, cutis laxa, scoliosis 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 projection of lower jaw

Always present (100%)HP:0000347

Diffuse white matter abnormalities

Always present (100%)HP:0007204

Dilated Virchow-Robin spaces

Always present (100%)HP:0012520

Eclabium

Always present (100%)HP:0012472

High forehead

Always present (100%)HP:0000348

Increased bleeding time

Always present (100%)HP:0003010

Increased width of bridge of nose

Always present (100%)HP:0000431

Large head

Always present (100%)HP:0000256

Palpebronasal fold

Always present (100%)HP:0000286

Peripheral hypotonia

Always present (100%)HP:0001252

Prominent lips

Always present (100%)HP:0012471

Soft skin

Always present (100%)HP:0000977

Sparse eyebrow

Always present (100%)HP:0045075

Swelling of eyelids

Always present (100%)HP:0100540

Thin, sparse hair

Always present (100%)HP:0008070

Tiredness

Always present (100%)HP:0012378

Cellulitis of upper eyelid

Very frequent (80-99%)HP:0012724

Coarse face

Very frequent (80-99%)HP:0000280

Down-slanting palpebral fissure

Very frequent (80-99%)HP:0000494

Fallen arches

Very frequent (80-99%)HP:0001763

Gingival overgrowth

Very frequent (80-99%)HP:0000212

High arched palate

Very frequent (80-99%)HP:0000218

Hirsutism

Very frequent (80-99%)HP:0001007

Increased length of philtrum

Very frequent (80-99%)HP:0000343

Infraorbital fold

Very frequent (80-99%)HP:0011232

Irregular teeth

Very frequent (80-99%)HP:0040079

Joint ligamentous laxity

Very frequent (80-99%)HP:0001382

Loose redundant skin

Very frequent (80-99%)HP:0001582

Malformation of lip

Very frequent (80-99%)HP:0000159

Scoliosis

Very frequent (80-99%)HP:0002650

Related Conditions

Multiple system malformation syndrome(parent)

Cutis laxa, autosomal recessive(parent)

Congenital anomaly of skin(parent)

Quick Facts

SNOMED CT: 723367005
UMLS CUI: C2751321
Fully Specified Name: Macrocephaly, alopecia, cutis laxa, scoliosis 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.