Fibulo-ulnar hypoplasia and renal anomalies syndrome

disorder

SNOMED 716094008CUI C1856727

Overview

Fibulo-ulnar hypoplasia and renal anomalies 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.

Absent proximal phalanges

Very frequent (80-99%)HP:0010242

Broad flat nasal bridge

Very frequent (80-99%)HP:0000431

Decreased projection of lower jaw

Very frequent (80-99%)HP:0000347

Down-slanting palpebral fissure

Very frequent (80-99%)HP:0000494

Flat nasal bridge

Very frequent (80-99%)HP:0005280

Frontal protuberance

Very frequent (80-99%)HP:0002007

Hydramnios

Very frequent (80-99%)HP:0001561

Hypoplastic/aplastic fibulae

Very frequent (80-99%)HP:0006492

Increased distance between eyes

Very frequent (80-99%)HP:0000316

Partial syndactyly

Very frequent (80-99%)HP:0006101

Premature birth

Very frequent (80-99%)HP:0001622

Protruding ear

Very frequent (80-99%)HP:0000411

Short ulna

Very frequent (80-99%)HP:0003022

shortened long tubular bones

Very frequent (80-99%)HP:0003026

2 vessel cord

Occasional (5-29%)HP:0001195

Abnormal mesentery morphology

Occasional (5-29%)HP:0100016

Abnormality of cardiovascular system morphology

Occasional (5-29%)HP:0030680

Cryptorchidism

Occasional (5-29%)HP:0000028

Hypoplasia of penis

Occasional (5-29%)HP:0008736

Shawl scrotum

Occasional (5-29%)HP:0000049

Small kidneys

Occasional (5-29%)HP:0000089

VSD

Occasional (5-29%)HP:0001629

Related Conditions

Congenital anomaly of the kidney(parent)

Recessive hereditary disorder (autosomal)(parent)

Congenital hypoplasia of fibula(parent)

Congenital hypoplasia of ulna(parent)

Hereditary disorder of musculoskeletal system(parent)

Hereditary nephropathy(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 716094008
UMLS CUI: C1856727
Fully Specified Name: Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 22

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.