X-linked intellectual disability, craniofacioskeletal syndrome

disorder

SNOMED 773274001CUI C4750743

Overview

X-linked intellectual disability, craniofacioskeletal 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.

Bilateral ptosis

Frequent (30-79%)HP:0001488

Decreased body height

Frequent (30-79%)HP:0004322

Decreased height of philtrum

Frequent (30-79%)HP:0000322

Decreased size of cranium

Frequent (30-79%)HP:0000252

Decreased volume of upper lip

Frequent (30-79%)HP:0000219

Fallen arches

Frequent (30-79%)HP:0001763

Hypoplastic/small little finger

Frequent (30-79%)HP:0009237

Mental retardation, mild

Frequent (30-79%)HP:0001256

Overhanging nasal tip

Frequent (30-79%)HP:0011833

Posteriorly angulated ears

Frequent (30-79%)HP:0000358

Small chin

Frequent (30-79%)HP:0000331

Small nasal alae

Frequent (30-79%)HP:0000430

Toe curvature

Frequent (30-79%)HP:0001863

Absent gallbladder

Occasional (5-29%)HP:0011467

Anterior bulging of the globe of eye

Occasional (5-29%)HP:0000520

Aortic arch obstruction

Occasional (5-29%)HP:0011611

Aplasia/Hypoplasia of the nails

Occasional (5-29%)HP:0008386

Atria septal defect

Occasional (5-29%)HP:0001631

Bulbous tips of toes

Occasional (5-29%)HP:0001782

Capillary hemangioma

Occasional (5-29%)HP:0005306

Cardiac murmur

Occasional (5-29%)HP:0030148

Choanal atresia

Occasional (5-29%)HP:0000453

Cleft of palate

Occasional (5-29%)HP:0000175

Cryptorchidism

Occasional (5-29%)HP:0000028

Down-slanting palpebral fissure

Occasional (5-29%)HP:0000494

High blood bilirubin levels

Occasional (5-29%)HP:0002904

Hydronephrosis

Occasional (5-29%)HP:0000126

Hyperextensible fingers

Occasional (5-29%)HP:0001187

Hypospadias

Occasional (5-29%)HP:0000047

Increased length of toes

Occasional (5-29%)HP:0010511

Related Conditions

X-linked hereditary disease(parent)

Multiple system malformation syndrome(parent)

Developmental hereditary disorder(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 773274001
UMLS CUI: C4750743
Fully Specified Name: X-linked intellectual disability, craniofacioskeletal 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.