Clinical Signs and Symptoms
ORPHA:90350 Autosomal recessive cutis laxa type 2
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.
- Anteverted nares HP:0000463
- Cutis laxa HP:0000973
- Delayed cranial suture closure HP:0000270
- Growth delay HP:0001510
- Intrauterine growth retardation HP:0001511
- Joint hyperflexibility HP:0005692
- Low-set ears HP:0000369
- Macrotia HP:0000400
- Mandibular prognathia HP:0000303
- Myopia HP:0000545
- Narrow mouth HP:0000160
- Premature skin wrinkling HP:0100678
- Redundant skin HP:0001582
- Short nose HP:0003196
- Strabismus HP:0000486
- Wide nasal bridge HP:0000431
- Carious teeth HP:0000670
- Congenital hip dislocation HP:0001374
- Downslanted palpebral fissures HP:0000494
- Ectropion HP:0000656
- Entropion HP:0000621
- Global developmental delay HP:0001263
- Hernia HP:0100790
- Hypertelorism HP:0000316
- Microcephaly HP:0000252
- Muscular hypotonia HP:0001252
- Osteoporosis HP:0000939
- Umbilical hernia HP:0001537
Specialised Social Services
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.