craniofrontonasal syndrome

MONDO:0010570Mondo

Findings

No curated finding names craniofrontonasal syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

An X-linked malformation syndrome characterized by facial asymmetry (particularly orbital), body asymmetry, midline defects (hypertelorism, frontal bossing, broad grooved or bifid nasal tip, cleft lip and/or palate, high arched palate), skeletal anomalies (clavicle pseudoarthrosis, coronal craniosynostosis, various digital and limb anomalies including syndactyly, clinodactyly of the 5th finger, broad thumbs) and ectodermal dysplasias (dental anomalies, grooved nails, wiry hair). Contrary to most X-linked disorders, females are much more severely affected whereas males are asymptomatic or present with a mild phenotype, frequently only displaying hypertelorism.

Definition from the Mondo Disease Ontology (MONDO:0010570), read 2026-09-29. CC BY 4.0.

Inheritance: X-linked dominant inheritance

Features

47 features

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

HypertelorismHPOHP:0000316
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
BrachycephalyHPOHP:0000248
- Very frequent (80% to 99% of cases)
CraniosynostosisHPOHP:0001363
- Very frequent (80% to 99% of cases)
Depressed nasal ridgeHPOHP:0000457
- Very frequent (80% to 99% of cases)
Frontal bossingHPOHP:0002007
- Very frequent (80% to 99% of cases)

Genes

1 gene

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

EFNB1HGNC:3226
- Definitive · Ambry Genetics · X-linked · 2024
- Definitive · ClinGen · X-linked · 2020
- Definitive · G2P · X-linked · 2023
- Strong · Genomics England PanelApp · X-linked · 2020
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2021
- Supportive · Orphanet · X-linked · 2021

Where it sits

A kind of: neurocristopathy
skeletal dysplasia
syndromic disease

Other names

4 names

Resolves to: craniofrontonasal syndrome

Also called: CFNDCFNSCraniofrontonasal Dysplasiacraniofrontonasal dysplasia, X-linked dominant

Show the remaining 35

Broad hallux phalanxHPOHP:0010059
- Frequent (30% to 79% of cases)
Camptodactyly of fingerHPOHP:0100490
- Frequent (30% to 79% of cases)
Clinodactyly of the 5th fingerHPOHP:0004209
- Frequent (30% to 79% of cases)
Congenital pseudoarthrosis of the clavicleHPOHP:0006585
- Frequent (30% to 79% of cases)
Down-sloping shoulderHPOHP:0200021
- Frequent (30% to 79% of cases)
Downslanted palpebral fissuresHPOHP:0000494
- Frequent (30% to 79% of cases)
Facial asymmetryHPOHP:0000324
- Frequent (30% to 79% of cases)
Finger syndactylyHPOHP:0006101
- Frequent (30% to 79% of cases)
Hand polydactylyHPOHP:0001161
- Frequent (30% to 79% of cases)
High palateHPOHP:0000218
- Frequent (30% to 79% of cases)
HypotoniaHPOHP:0001252
- Frequent (30% to 79% of cases)
Intellectual disabilityHPOHP:0001249
- 0 of 5 reported patients
- Frequent (30% to 79% of cases)
Joint hypermobilityHPOHP:0001382
- Frequent (30% to 79% of cases)
Low posterior hairlineHPOHP:0002162
- Frequent (30% to 79% of cases)
MicrocephalyHPOHP:0000252
- Frequent (30% to 79% of cases)
Orofacial cleftHPOHP:0000202
- Frequent (30% to 79% of cases)
PlagiocephalyHPOHP:0001357
- Frequent (30% to 79% of cases)
Sandal gapHPOHP:0001852
- Frequent (30% to 79% of cases)
ScoliosisHPOHP:0002650
- 1 of 5 reported patients
- Frequent (30% to 79% of cases)
Sensorineural hearing impairmentHPOHP:0000407
- Frequent (30% to 79% of cases)
Sprengel anomalyHPOHP:0000912
- 1 of 5 reported patients
- Frequent (30% to 79% of cases)
Thickened nuchal skin foldHPOHP:0000474
- Frequent (30% to 79% of cases)
Widow's peakHPOHP:0000349
- Frequent (30% to 79% of cases)
Woolly hairHPOHP:0002224
- Frequent (30% to 79% of cases)
Ridged nailHPOHP:0001807
- 2 of 5 reported patients
Aplasia/Hypoplasia of the nipplesHPOHP:0006709
- Occasional (5% to 29% of cases)
Congenital diaphragmatic herniaHPOHP:0000776
- Occasional (5% to 29% of cases)
Hypoplasia of the corpus callosumHPOHP:0002079
- 1 of 5 reported patients
- Occasional (5% to 29% of cases)
HypospadiasHPOHP:0000047
- Occasional (5% to 29% of cases)
Pectus excavatumHPOHP:0000767
- Occasional (5% to 29% of cases)
Shawl scrotumHPOHP:0000049
- Occasional (5% to 29% of cases)
3-4 finger cutaneous syndactylyHPOHP:0011939
- 1 of 5 reported patients
Curly hairHPOHP:0002212
- 1 of 5 reported patients
Unilateral breast hypoplasiaHPOHP:0012813
- 1 of 5 reported patients
Webbed neckHPOHP:0000465
- 1 of 5 reported patients