acrofacial dysostosis, Catania type
Findings
No curated finding names acrofacial dysostosis, Catania type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Acrofacialdysostosis, Catania type is a very rare type of acrofacialdysostosis characterized by mild intrauterine growth retardation (IUGR), postnatal short stature, microcephaly, widow's peak, mandibulofacial dysostosis without cleft palate, frequent caries, mild pre- and postaxial limb hypoplasia with brachydactyly, mild interdigital webbing, simian creases, inguinal hernia and cryptorchidism and hypospadias in males.
Definition from the Mondo Disease Ontology (MONDO:0007045), read 2026-09-29. CC BY 4.0.
Features
44 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.
- BrachydactylyHPOHP:0001156
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Cerebellar vermis hypoplasiaHPOHP:0001320
- 1 of 1 reported patient
- Cerebral cortical atrophyHPOHP:0002120
- 1 of 1 reported patient
- Downslanted palpebral fissuresHPOHP:0000494
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Enlarged cisterna magnaHPOHP:0002280
- 1 of 1 reported patient
- Hypoplasia of the corpus callosumHPOHP:0002079
- 1 of 1 reported patient
Show the remaining 32
- Webbed neckHPOHP:0000465
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Abnormal dermatoglyphicsHPOHP:0007477
- Very frequent (80% to 99% of cases)
- Abnormal palate morphologyHPOHP:0000174
- Very frequent (80% to 99% of cases)
- Abnormality of the dentitionHPOHP:0000164
- Very frequent (80% to 99% of cases)
- Carious teethHPOHP:0000670
- Very frequent (80% to 99% of cases)
- Finger syndactylyHPOHP:0006101
Where it sits
Other names
1 name
Resolves to: acrofacial dysostosis, Catania type
- Also called
- Opitz-Caltabiano syndrome