craniofrontonasal dysplasia-Poland anomaly syndrome

Summary

craniofrontonasal dysplasia-Poland anomaly syndrome (MONDO:0015464) is a disease. A subtype of syndromic breast hypoplasia/aplasia — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Phenotypes (HPO): 26

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		2	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

26 HPO clinical features (Orphanet curated; top 26 by frequency):

HPO ID	Term	Frequency
HP:0000316	Hypertelorism	Very frequent (80-99%)
HP:0000445	Wide nose	Very frequent (80-99%)
HP:0000455	Broad nasal tip	Very frequent (80-99%)
HP:0001363	Craniosynostosis	Very frequent (80-99%)
HP:0004112	Midline nasal groove	Very frequent (80-99%)
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	Very frequent (80-99%)
HP:0000136	Bifid uterus	Frequent (30-79%)
HP:0000154	Wide mouth	Frequent (30-79%)
HP:0000200	Short lingual frenulum	Frequent (30-79%)
HP:0000218	High palate	Frequent (30-79%)
HP:0000465	Webbed neck	Frequent (30-79%)
HP:0000486	Strabismus	Frequent (30-79%)
HP:0001159	Syndactyly	Frequent (30-79%)
HP:0001231	Abnormal fingernail morphology	Frequent (30-79%)
HP:0001357	Plagiocephaly	Frequent (30-79%)
HP:0001464	Aplasia/Hypoplasia involving the shoulder musculature	Frequent (30-79%)
HP:0001540	Diastasis recti	Frequent (30-79%)
HP:0002162	Low posterior hairline	Frequent (30-79%)
HP:0002558	Supernumerary nipple	Frequent (30-79%)
HP:0006008	Unilateral brachydactyly	Frequent (30-79%)
HP:0006709	Aplasia/Hypoplasia of the nipples	Frequent (30-79%)
HP:0009930	Asymmetry of the nares	Frequent (30-79%)
HP:0011959	Unilateral hypoplasia of pectoralis major muscle	Frequent (30-79%)
HP:0012243	Abnormal reproductive system morphology	Frequent (30-79%)
HP:0030867	Vertical orbital dystopia	Frequent (30-79%)
HP:0045075	Sparse eyebrow	Frequent (30-79%)

Identifiers

Disease identifiers

Field	Value
Canonical name	craniofrontonasal dysplasia-Poland anomaly syndrome
Mondo ID	MONDO:0015464
Orphanet	1521
SNOMED CT	720757001
UMLS	C4303859
MedGen	929528
GARD	0000428
Is cancer (heuristic)	no

Also known as: Webster-Deming syndrome

Disease family

Classification path: disease › human disease › disease by body system or component › breast disorder › syndromic breast hypoplasia/aplasia › craniofrontonasal dysplasia-Poland anomaly syndrome

Related subtypes (2): Poland syndrome, acropectororenal dysplasia

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.