acromelic frontonasal dysostosis

MONDO:0011359Mondo

Findings

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

Acromelic frontonasal dysplasia (AFND) is a rare variant of frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism.

Definition from the Mondo Disease Ontology (MONDO:0011359), read 2026-09-29. CC BY 4.0.

Inheritance: Autosomal dominant inheritance
Onset and course: Congenital onset · Late first trimester onset

Features

61 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.

Absent fetal nasal boneHPOHP:0025706
- 1 of 1 reported patient
Aplasia of the olfactory bulbHPOHP:0032466
- 2 of 2 reported patients
HypertelorismHPOHP:0000316
- 9 of 9 reported patients
- Very frequent (80% to 99% of cases)
Mesomelic leg shorteningHPOHP:0004987
- 1 of 1 reported patient
Midline defect of the noseHPOHP:0004122
- 4 of 4 reported patients
Midline facial cleft

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.

ZSWIM6HGNC:29316
- Definitive · ClinGen · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2018
- Strong · G2P · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021

Where it sits

A kind of: acrofacial dysostosis
frontonasal dysplasia

Other names

2 names

Resolves to: acromelic frontonasal dysostosis

Also called: AFNDToriello syndrome

Show the remaining 49

Global developmental delayHPOHP:0001263
- 6 of 7 reported patients
- Very frequent (80% to 99% of cases)
Preaxial foot polydactylyHPOHP:0001841
- 5 of 6 reported patients
- Very frequent (80% to 99% of cases)
Abnormal toenail morphologyHPOHP:0008388
- Very frequent (80% to 99% of cases)
Abnormality of the glabellaHPOHP:0002056
- Very frequent (80% to 99% of cases)
Agenesis of corpus callosumHPOHP:0001274
- 1 of 5 reported patients
- Very frequent (80% to 99% of cases)
Bifid nasal tipHPOHP:0000456
- Very frequent (80% to 99% of cases)
BrachycephalyHPOHP:0000248
- Very frequent (80% to 99% of cases)
Broad nasal tipHPOHP:0000455
- Very frequent (80% to 99% of cases)
EncephaloceleHPOHP:0002084
- Very frequent (80% to 99% of cases)
Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
Large fontanellesHPOHP:0000239
- Very frequent (80% to 99% of cases)
Median cleft palateHPOHP:0009099
- Very frequent (80% to 99% of cases)
MeningoceleHPOHP:0002435
- Very frequent (80% to 99% of cases)
Midline central nervous system lipomasHPOHP:0006866
- 6 of 8 reported patients
- Very frequent (80% to 99% of cases)
Talipes equinovarusHPOHP:0001762
- Very frequent (80% to 99% of cases)
Thick nasal alaeHPOHP:0009928
- Very frequent (80% to 99% of cases)
Calcification of falx cerebriHPOHP:0005462
- 3 of 4 reported patients
Downslanted palpebral fissuresHPOHP:0000494
- 3 of 4 reported patients
Large sella turcicaHPOHP:0002690
- 3 of 4 reported patients
- Occasional (5% to 29% of cases)
Short tibiaHPOHP:0005736
- 3 of 4 reported patients
HypopituitarismHPOHP:0040075
- 2 of 3 reported patients
- Occasional (5% to 29% of cases)
MyopiaHPOHP:0000545
- 2 of 3 reported patients
- Occasional (5% to 29% of cases)
PtosisHPOHP:0000508
- 5 of 8 reported patients
- Occasional (5% to 29% of cases)
Choroid plexus cystHPOHP:0002190
- 2 of 4 reported patients
- Frequent (30% to 79% of cases)
Hypoplasia of the olfactory bulbHPOHP:0040326
- Frequent (30% to 79% of cases)
Median cleft upper lipHPOHP:0000161
- Frequent (30% to 79% of cases)
VentriculomegalyHPOHP:0002119
- 2 of 4 reported patients
- Frequent (30% to 79% of cases)
CryptorchidismHPOHP:0000028
- 2 of 4 reported patients
- Occasional (5% to 29% of cases)
Parietal foraminaHPOHP:0002697
- 4 of 8 reported patients
U-Shaped upper lip vermilionHPOHP:0010806
- 2 of 4 reported patients
Anterior pituitary hypoplasiaHPOHP:0010627
- Occasional (5% to 29% of cases)
Aplasia/Hypoplasia of the tibiaHPOHP:0005772
- Occasional (5% to 29% of cases)
Retrocerebellar cystHPOHP:0006951
- 1 of 4 reported patients
- Occasional (5% to 29% of cases)
SeizureHPOHP:0001250
- Occasional (5% to 29% of cases)
Upper airway obstructionHPOHP:0002781
- Occasional (5% to 29% of cases)
Wide mouthHPOHP:0000154
- Occasional (5% to 29% of cases)
GlaucomaHPOHP:0000501
- 1 of 3 reported patients
- Very rare (1% to 4% of cases)
Optic nerve hypoplasiaHPOHP:0000609
- 1 of 3 reported patients
Remnants of the hyaloid vascular systemHPOHP:0007968
- 1 of 3 reported patients
Absent septum pellucidumHPOHP:0001331
- 1 of 4 reported patients
Cavum septum pellucidumHPOHP:0002389
- 1 of 4 reported patients
Cleft palateHPOHP:0000175
- 1 of 4 reported patients
Dilation of Virchow-Robin spacesHPOHP:0012520
- 1 of 4 reported patients
Hypoplasia of the corpus callosumHPOHP:0002079
- 1 of 4 reported patients
Periventricular nodular heterotopiaHPOHP:0032388
- 1 of 4 reported patients
Submucous cleft soft palateHPOHP:0011819
- 1 of 4 reported patients
Dermoid cystHPOHP:0025247
- Very rare (1% to 4% of cases)
Low-set earsHPOHP:0000369
- 1 of 9 reported patients
Preaxial hand polydactylyHPOHP:0001177
- 0 of 6 reported patients