Recombinant chromosome 8 syndrome

disorder

SNOMED 718189004CUI C0795822

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Decreased volume of upper lip

Always present (100%)HP:0000219

Abnormal hair morphology

Very frequent (80-99%)HP:0001595

Cryptorchidism

Very frequent (80-99%)HP:0000028

Deep wrinkles in soles of feet

Very frequent (80-99%)HP:0001869

Dental anomalies

Very frequent (80-99%)HP:0000164

Distortion of face

Very frequent (80-99%)HP:0001999

Downturned corners of mouth

Very frequent (80-99%)HP:0002714

Dull intelligence

Very frequent (80-99%)HP:0001249

Hypoplastic mandible

Very frequent (80-99%)HP:0000347

Increased distance between eyes

Very frequent (80-99%)HP:0000316

Large facies

Very frequent (80-99%)HP:0100729

Loose redundant skin

Very frequent (80-99%)HP:0001582

Low posterior hair line

Very frequent (80-99%)HP:0002162

Mental and motor retardation

Very frequent (80-99%)HP:0001263

Nostrils anteverted

Very frequent (80-99%)HP:0000463

Abnormality of cardiovascular system morphology

Frequent (30-79%)HP:0030680

Abnormality of lingual frenum

Frequent (30-79%)HP:0000190

Atria septal defect

Frequent (30-79%)HP:0001631

Bilateral single transverse palmar creases

Frequent (30-79%)HP:0007598

Chronic middle ear infection

Frequent (30-79%)HP:0000389

Cobb angle greater than ten degrees

Frequent (30-79%)HP:0002650

Ear anomalies

Frequent (30-79%)HP:0000356

Epilepsy

Frequent (30-79%)HP:0001250

Flat nasal bridge

Frequent (30-79%)HP:0005280

Gum enlargement

Frequent (30-79%)HP:0000212

Hearing impairment

Frequent (30-79%)HP:0000365

Involuntary muscle stiffness, contraction, or spasm

Frequent (30-79%)HP:0001257

Low-set ears

Frequent (30-79%)HP:0000369

Malformation of the neck

Frequent (30-79%)HP:0000464

Patellar aplasia

Frequent (30-79%)HP:0006443

Related Conditions

Anomaly of chromosome pair 8(parent)

Quick Facts

SNOMED CT: 718189004
UMLS CUI: C0795822
Fully Specified Name: Recombinant chromosome 8 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.