Clinical Signs and Symptoms
ORPHA:950 Acrodysostosis
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 form of the vertebral bodies HP:0003312
- Abnormality of the metacarpal bones HP:0001163
- Abnormality of the nail HP:0001597
- Accelerated skeletal maturation HP:0005616
- Brachydactyly HP:0001156
- Cone-shaped epiphysis HP:0010579
- Depressed nasal bridge HP:0005280
- Depressed nasal ridge HP:0000457
- Epiphyseal stippling HP:0010655
- Hypoplasia of the maxilla HP:0000327
- Intellectual disability HP:0001249
- Midface retrusion HP:0011800
- Open mouth HP:0000194
- Short metacarpal HP:0010049
- Short metatarsal HP:0010743
- Short nose HP:0003196
- Short stature HP:0004322
- Short toe HP:0001831
- Wide nasal bridge HP:0000431
Very frequent
- Abnormality of female external genitalia HP:0000055
- Abnormality of immune system physiology HP:0010978
- Abnormality of the radius HP:0002818
- Abnormality of the ulna HP:0002997
- Anteverted nares HP:0000463
- Brachycephaly HP:0000248
- Cryptorchidism HP:0000028
- Delayed eruption of teeth HP:0000684
- Hearing impairment HP:0000365
- Hypertelorism HP:0000316
- Hypoplasia of the radius HP:0002984
- Hypoplasia of the ulna HP:0003022
- Mandibular prognathia HP:0000303
- Micromelia HP:0002983
- Peripheral neuropathy HP:0009830
- Spinal canal stenosis HP:0003416
Frequent
- Epicanthus HP:0000286
- Hypogonadism HP:0000135
- Irregular menstruation HP:0000858
- Melanocytic nevus HP:0000995
- Open bite HP:0010807
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.