Developmental delay, short stature, dysmorphic features, sparse hair syndrome

disorder

SNOMED 1217229007CUI C4310801

Overview

Developmental delay, short stature, dysmorphic features, sparse hair 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.

Nonprogressive mental retardation

Always present (100%)HP:0001249

Thin eyelashes

Always present (100%)HP:0000653

Cognitive delay

Very frequent (80-99%)HP:0001263

Decreased body height

Very frequent (80-99%)HP:0004322

Funny looking face

Very frequent (80-99%)HP:0001999

Protruding forehead

Very frequent (80-99%)HP:0011220

Sparse eyebrow

Very frequent (80-99%)HP:0045075

Thinning scalp hair

Very frequent (80-99%)HP:0002209

Camptodactyly

Frequent (30-79%)HP:0012385

Cerebellar vermis hypoplasia

Frequent (30-79%)HP:0001320

Dandy-Walker cyst

Frequent (30-79%)HP:0001305

Dropped arches

Frequent (30-79%)HP:0001763

Flat nasal bridge

Frequent (30-79%)HP:0005280

Hypoplastic toenails

Frequent (30-79%)HP:0001800

Nonsyndromal hydrocephalus

Frequent (30-79%)HP:0000238

Posterior fossa cyst

Frequent (30-79%)HP:0007291

Renal anomalies

Frequent (30-79%)HP:0000077

VSD

Frequent (30-79%)HP:0001629

Wedge shaped head

Frequent (30-79%)HP:0000243

Absence of corpus callosum

Occasional (5-29%)HP:0001274

Anxiety disease

Occasional (5-29%)HP:0000739

Aortic stenosis

Occasional (5-29%)HP:0001650

Atria septal defect

Occasional (5-29%)HP:0001631

Bilateral single transverse palmar creases

Occasional (5-29%)HP:0007598

Blood in urine

Occasional (5-29%)HP:0000790

Childhood attention deficit/hyperactivity disorder

Occasional (5-29%)HP:0007018

Cleft of palate

Occasional (5-29%)HP:0000175

Disproportionately small hands

Occasional (5-29%)HP:0200055

Down-slanting palpebral fissure

Occasional (5-29%)HP:0000494

Enuresis

Occasional (5-29%)HP:0000805

Related Conditions

Dysostosis of bone of skull(parent)

Small stature(parent)

Congenital ectodermal defect(parent)

Congenital anomaly of face bones(parent)

Developmental hereditary disorder(parent)

Hereditary disorder of musculoskeletal system(parent)

Multiple malformation syndrome with facial defects as major feature(parent)

Lesion of face(parent)

Recessive hereditary disorder (autosomal)(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 1217229007
UMLS CUI: C4310801
Fully Specified Name: Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability 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.