Holoprosencephaly and postaxial polydactyly syndrome

disorder

SNOMED 716091000CUI C1849649

Overview

Holoprosencephaly and postaxial polydactyly 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.

Hypoplasia of penis

Very frequent (80-99%)HP:0008736

Nanophthalmos

Very frequent (80-99%)HP:0000568

Ocular hypotelorism

Very frequent (80-99%)HP:0000601

Postaxial hand polydactyly

Very frequent (80-99%)HP:0001162

Premaxillary retrusion

Very frequent (80-99%)HP:0010650

Abnormality of cardiovascular system morphology

Frequent (30-79%)HP:0030680

Abnormality of the hypothalamus-pituitary axis

Frequent (30-79%)HP:0000864

Ambiguous external genitalia

Frequent (30-79%)HP:0000062

Anal atresia

Frequent (30-79%)HP:0002023

Central hypotonia

Frequent (30-79%)HP:0001252

Cleft lip, cleft palate

Frequent (30-79%)HP:0000202

Cleft of palate

Frequent (30-79%)HP:0000175

Cleft of upper lip

Frequent (30-79%)HP:0000204

Cryptorchidism

Frequent (30-79%)HP:0000028

Decreased size of cranium

Frequent (30-79%)HP:0000252

Heart septal defect

Frequent (30-79%)HP:0001671

Hypoplastic or absent corpus callosum

Frequent (30-79%)HP:0007370

Hypospadias

Frequent (30-79%)HP:0000047

Lung segmentation defects

Frequent (30-79%)HP:0002101

Nonsyndromal hydrocephalus

Frequent (30-79%)HP:0000238

Posteriorly angulated ears

Frequent (30-79%)HP:0000358

Single brain ventricle

Frequent (30-79%)HP:0001360

Small adrenal glands

Frequent (30-79%)HP:0000835

Small thyroid gland

Frequent (30-79%)HP:0005990

Abnormal localization of kidney

Occasional (5-29%)HP:0100542

Absent nares

Occasional (5-29%)HP:0100596

Bifid skull

Occasional (5-29%)HP:0002084

Cyclopia

Occasional (5-29%)HP:0009914

Decreased projection of lower jaw

Occasional (5-29%)HP:0000347

Increased amniotic fluid index

Occasional (5-29%)HP:0001561

Related Conditions

Holoprosencephaly sequence(parent)

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

Recessive hereditary disorder (autosomal)(parent)

Accessory digit(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 716091000
UMLS CUI: C1849649
Fully Specified Name: Holoprosencephaly and postaxial polydactyly 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.