Clinical Signs and Symptoms
ORPHA:1786 Acrofacial dysostosis, Catania type
The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO). Phenotypic abnormalities are presented by order of frequency of occurrence in the patient population, then by alphabetical order inside each frequency group.
- Abnormal dermatoglyphics HP:0007477
- Abnormal palate morphology HP:0000174
- Abnormality of the dentition HP:0000164
- Brachydactyly HP:0001156
- Carious teeth HP:0000670
- Downslanted palpebral fissures HP:0000494
- Finger syndactyly HP:0006101
- High forehead HP:0000348
- Hypoplasia of the zygomatic bone HP:0010669
- Intellectual disability, mild HP:0001256
- Microcephaly HP:0000252
- Microretrognathia HP:0000308
- Short nose HP:0003196
- Short palm HP:0004279
- Short stature HP:0004322
- Small hand HP:0200055
- Smooth philtrum HP:0000319
Very frequent
- Abnormal hair pattern HP:0010720
- Bilateral single transverse palmar creases HP:0007598
- Cryptorchidism HP:0000028
- Delayed skeletal maturation HP:0002750
- Feeding difficulties in infancy HP:0008872
- Intrauterine growth retardation HP:0001511
- Low-set, posteriorly rotated ears HP:0000368
- Preauricular pit HP:0004467
Frequent
- Clinodactyly of the 5th finger HP:0004209
- Coarse hair HP:0002208
- Facial cleft HP:0002006
- Hypospadias HP:0000047
- Inguinal hernia HP:0000023
- Pectus excavatum HP:0000767
- Premature birth HP:0001622
- Reduced number of teeth HP:0009804
- Spina bifida occulta HP:0003298
- Webbed neck HP:0000465
Occasional
Additional information
Further information
Specialised Social Services
Warning
The information provided is based on published scientific articles.
The information provided is estimated for the entire population of patients in routine care. Some phenotypic abnormalities reported here may occur individually with a variable temporality or severity, while others, not listed, may still be encountered. Phenotypic annotations are not yet available for all rare diseases; the annotation process is ongoing.
The information contained in Orphanet is regularly updated. It is possible that discoveries have been made since the last update and have not yet been incorporated.
Professionals are encouraged to always consult the latest scientific publications before making a decision based on the information provided. The information contained in Orphanet is not intended to replace the services of a healthcare professional. Orphanet cannot be held responsible for the deleterious, truncated or erroneous use of any information found in the Orphanet database.