Clinical Signs and Symptoms
ORPHA:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
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.
- Achalasia HP:0002571
- Bilateral sensorineural hearing impairment HP:0008619
- Cataract HP:0000518
- Cervical spinal canal stenosis HP:0008445
- Developmental cataract HP:0000519
- Fasting hypoglycemia HP:0003162
- Genu valgum HP:0002857
- Growth hormone deficiency HP:0000824
- Hip dislocation HP:0002827
- Motor delay HP:0001270
- Narrow mouth HP:0000160
- Periarticular subcutaneous nodules HP:0007470
- Peripheral neuropathy HP:0009830
- Prelingual sensorineural hearing impairment HP:0000399
- Progressive sensorineural hearing impairment HP:0000408
- Prominent forehead HP:0011220
- Scoliosis HP:0002650
- Sensorineural hearing impairment HP:0000407
- Short stature HP:0004322
- Skeletal dysplasia HP:0002652
- Spinal canal stenosis HP:0003416
- Spondyloepiphyseal dysplasia HP:0002655
- Thick eyebrow HP:0000574
- Thoracic kyphoscoliosis HP:0005659
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.