Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome

disorder

SNOMED 722281001CUI C4302680

Overview

Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis 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.

Arachnodactyly

Frequent (30-79%)HP:0001166

Blepharophimosis

Frequent (30-79%)HP:0000581

Cleft of palate

Frequent (30-79%)HP:0000175

Coanal stenosis

Frequent (30-79%)HP:0000452

Craniosynostosis of coronal suture

Frequent (30-79%)HP:0004440

Decreased circulating total IgM

Frequent (30-79%)HP:0002850

Decreased projection of mandible

Frequent (30-79%)HP:0000347

Decreased size of cranium

Frequent (30-79%)HP:0000252

Epidermal hyperplasia

Frequent (30-79%)HP:0025092

Growth delay as children

Frequent (30-79%)HP:0008897

Laboured breathing

Frequent (30-79%)HP:0002098

Low-set ears

Frequent (30-79%)HP:0000369

Mental and motor retardation

Frequent (30-79%)HP:0001263

Parakeratosis

Frequent (30-79%)HP:0001036

PEG-fed in infancy

Frequent (30-79%)HP:0011471

Seborrhea

Frequent (30-79%)HP:0001051

Small nasal alae

Frequent (30-79%)HP:0000430

Superficial dermal perivascular inflammatory infiltrate

Frequent (30-79%)HP:0031190

Undergrowth

Frequent (30-79%)HP:0001508

B cell lymphopenia

Occasional (5-29%)HP:0010976

Biliary hyperplasia

Occasional (5-29%)HP:0006560

Brachyturricephaly

Occasional (5-29%)HP:0000244

Brain wasting

Occasional (5-29%)HP:0012444

Cleft vertebral arch

Occasional (5-29%)HP:0004616

Contracture of the distal interphalangeal joint of the fingers

Occasional (5-29%)HP:0009697

Cryptorchidism

Occasional (5-29%)HP:0000028

Dermatitis

Occasional (5-29%)HP:0000964

Diffuse cerebral atrophy

Occasional (5-29%)HP:0002506

Down-slanting palpebral fissure

Occasional (5-29%)HP:0000494

Enlarged liver

Occasional (5-29%)HP:0002240

Related Conditions

Craniosynostosis syndrome(parent)

Multiple system malformation syndrome(parent)

Recessive hereditary disorder (autosomal)(parent)

Congenital agammaglobulinemia(parent)

Hereditary disorder of immune system(parent)

Hereditary disorder of the integument(parent)

Hereditary disorder of musculoskeletal system(parent)

Inflammatory dermatosis(parent)

Congenital anomaly of skin(parent)

Developmental hereditary disorder(parent)

Congenital microcephalus(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 722281001
UMLS CUI: C4302680
Fully Specified Name: Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis 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.