Frontonasal dysplasia with alopecia and genital anomaly syndrome

disorder

SNOMED 725029001CUI C4510728

Overview

Frontonasal dysplasia with alopecia and genital anomaly 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.

Bifid skull

Very frequent (80-99%)HP:0002084

Calvarial defect

Very frequent (80-99%)HP:0001362

Cleft nose

Very frequent (80-99%)HP:0011803

Craniosynostosis of coronal suture

Very frequent (80-99%)HP:0004440

Cryptorchidism

Very frequent (80-99%)HP:0000028

Decreased activity of gonads

Very frequent (80-99%)HP:0000135

Flat nasal bridge

Very frequent (80-99%)HP:0005280

Hair loss

Very frequent (80-99%)HP:0001596

Increased distance between eyes

Very frequent (80-99%)HP:0000316

Increased intercanthal distance

Very frequent (80-99%)HP:0000506

Involuntary, rapid, rhythmic eye movements

Very frequent (80-99%)HP:0000639

Mental retardation, mild

Very frequent (80-99%)HP:0001256

Moderate mental retardation

Very frequent (80-99%)HP:0002342

Mongoloid slant

Very frequent (80-99%)HP:0000582

Nostrils anteverted

Very frequent (80-99%)HP:0000463

Small nasal alae

Very frequent (80-99%)HP:0000430

Squint

Very frequent (80-99%)HP:0000486

Wide cranium shape

Very frequent (80-99%)HP:0000248

Wide philtrum

Very frequent (80-99%)HP:0000289

Absence of corpus callosum

Frequent (30-79%)HP:0001274

Cerebellar vermis aplasia

Frequent (30-79%)HP:0002335

Decreased amniotic fluid index

Frequent (30-79%)HP:0001562

Decreased size of eyeball

Frequent (30-79%)HP:0000568

Dental problems

Frequent (30-79%)HP:0000164

Fine hair

Frequent (30-79%)HP:0002213

Frontal protuberance

Frequent (30-79%)HP:0002007

Low-set ears

Frequent (30-79%)HP:0000369

Peg-shaped teeth

Frequent (30-79%)HP:0000698

Small for gestational age infant

Frequent (30-79%)HP:0001511

Smaller than typical growth of scrotum

Frequent (30-79%)HP:0000046

Related Conditions

Hypogonadism(parent)

Recessive hereditary disorder (autosomal)(parent)

Frontonasal dysplasia sequence(parent)

Hereditary disorder of endocrine system(parent)

Hereditary disorder of the integument(parent)

Hereditary disorder of musculoskeletal system(parent)

Reproductive system hereditary disorder(parent)

Congenital anomaly of endocrine gonad(parent)

Congenital alopecia(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 725029001
UMLS CUI: C4510728
Fully Specified Name: Frontonasal dysplasia with alopecia and genital anomaly 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.