Clinical Signs and Symptoms
ORPHA:2075 Genitopalatocardiac 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.
- Abnormal cardiac septum morphology HP:0001671
- Cleft palate HP:0000175
- Intrauterine growth retardation HP:0001511
- Low-set ears HP:0000369
- Male pseudohermaphroditism HP:0000037
- Malformation of the heart and great vessels HP:0002564
- Micrognathia HP:0000347
- Non-midline cleft lip HP:0100335
Very frequent
- Cryptorchidism HP:0000028
- Downslanted palpebral fissures HP:0000494
- Gonadal dysgenesis, male HP:0008668
- Hypospadias HP:0000047
Frequent
- Abnormality of mesentery morphology HP:0100016
- Abnormality of the gallbladder HP:0005264
- Brachydactyly HP:0001156
- Congenital diaphragmatic hernia HP:0000776
- Downturned corners of mouth HP:0002714
- Hydrocephalus HP:0000238
- Hypertelorism HP:0000316
- Kyphosis HP:0002808
- Microcephaly HP:0000252
- Multicystic kidney dysplasia HP:0000003
- Postaxial hand polydactyly HP:0001162
- Scoliosis HP:0002650
- Wide nasal bridge HP:0000431
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.