Acrocephalopolysyndactyly type II

disorder

SNOMED 403767009CUI C1275078

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.

Brachydactyly

Always present (100%)HP:0001156

Partial syndactyly

Always present (100%)HP:0006101

Syndactyly of feet

Always present (100%)HP:0001770

Abnormality of the skull bones

Very frequent (80-99%)HP:0000929

Accelerated linear growth

Very frequent (80-99%)HP:0000098

Acrocephaly

Very frequent (80-99%)HP:0000263

Bilateral fifth digit clinodactyly

Very frequent (80-99%)HP:0004209

Craniosyostosis

Very frequent (80-99%)HP:0001363

Cryptorchidism

Very frequent (80-99%)HP:0000028

Decreased transverse dimension of face

Very frequent (80-99%)HP:0000275

Flattening of cranial vault

Very frequent (80-99%)HP:0001357

Hypogenitalism

Very frequent (80-99%)HP:0003241

Hypoplastic hands

Very frequent (80-99%)HP:0004279

Increased distance between eyes

Very frequent (80-99%)HP:0000316

Large head

Very frequent (80-99%)HP:0000256

Mental-retardation

Very frequent (80-99%)HP:0001249

Obesity

Very frequent (80-99%)HP:0001513

Palpebronasal fold

Very frequent (80-99%)HP:0000286

Polydactyly

Very frequent (80-99%)HP:0010442

Prominent frontal suture

Very frequent (80-99%)HP:0005487

Syndactyly

Very frequent (80-99%)HP:0001159

Abnormal reproductive system morphology

Frequent (30-79%)HP:0012243

Abnormality of cardiovascular system morphology

Frequent (30-79%)HP:0030680

Abnormality of the cornea

Frequent (30-79%)HP:0000481

Broad thumbs

Frequent (30-79%)HP:0011304

Cloverleaf cranium shape

Frequent (30-79%)HP:0002676

Genu valga

Frequent (30-79%)HP:0002857

Increased nasal width

Frequent (30-79%)HP:0000445

Polydactyly affecting the hallux

Frequent (30-79%)HP:0001841

Postaxial hand polydactyly

Frequent (30-79%)HP:0001162

Related Conditions

Acrocephalopolysyndactyly(parent)

Recessive hereditary disorder (autosomal)(parent)

Hereditary disorder of musculoskeletal system(parent)

Developmental hereditary disorder(parent)

Genetic syndromic childhood obesity(parent)

Quick Facts

SNOMED CT: 403767009
UMLS CUI: C1275078
Fully Specified Name: Acrocephalopolysyndactyly type II (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.