Clinical Signs and Symptoms
ORPHA:1272 Aymé-Gripp 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.
- Flat face HP:0012368
- Global developmental delay HP:0001263
- Intellectual disability HP:0001249
- Postnatal growth retardation HP:0008897
Very frequent
- Arnold-Chiari type I malformation HP:0007099
- Asymmetric crying face HP:0011333
- Bilateral ptosis HP:0001488
- Brachycephaly HP:0000248
- Camptodactyly HP:0012385
- Cataract HP:0000518
- Cerebral cortical atrophy HP:0002120
- Cleft palate HP:0000175
- Clinodactyly of the 5th finger HP:0004209
- Cryptorchidism HP:0000028
- Depressed nasal bridge HP:0005280
- Developmental cataract HP:0000519
- Downslanted palpebral fissures HP:0000494
- EEG abnormality HP:0002353
- High forehead HP:0000348
- Hydrocephalus HP:0000238
- Hypertelorism HP:0000316
- Infantile muscular hypotonia HP:0008947
- Large fontanelles HP:0000239
- Limitation of joint mobility HP:0001376
- Long philtrum HP:0000343
- Low-set ears HP:0000369
- Microtia HP:0008551
- Narrow mouth HP:0000160
- Oligodontia HP:0000677
- Plagiocephaly HP:0001357
- Posteriorly rotated ears HP:0000358
- Prominent metopic ridge HP:0005487
- Rocker bottom foot HP:0001838
- Seizures HP:0001250
- Sensorineural hearing impairment HP:0000407
- Shallow orbits HP:0000586
- Short nose HP:0003196
- Short stature HP:0004322
- Sparse scalp hair HP:0002209
- Tapered finger HP:0001182
- Thin upper lip vermilion HP:0000219
- Upslanted palpebral fissure HP:0000582
- Ventriculomegaly HP:0002119
- Visual impairment HP:0000505
Frequent
- Abnormality of cardiovascular system morphology HP:0030680
- Abnormality of the thorax HP:0000765
- Breast hypoplasia HP:0003187
- Congenital diaphragmatic hernia HP:0000776
- Craniosynostosis HP:0001363
- Delayed cranial suture closure HP:0000270
- Febrile seizures HP:0002373
- Glaucoma HP:0000501
- Hypoplasia of the corpus callosum HP:0002079
- Inguinal hernia HP:0000023
- J-shaped sella turcica HP:0002680
- Long eyelashes HP:0000527
- Megalocornea HP:0000485
- Patent ductus arteriosus HP:0001643
- Pericardial effusion HP:0001698
- Pericarditis HP:0001701
- Proteinuria HP:0000093
- Radioulnar synostosis HP:0002974
- Reduced arm span HP:0012770
- Scoliosis HP:0002650
- Stenosis of the external auditory canal HP:0000402
- Supernumerary ribs HP:0005815
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.