Clinical Signs and Symptoms
ORPHA:264200 14q22q23 microdeletion 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.
- Abnormality of the hypothalamus-pituitary axis HP:0000864
- Anophthalmia HP:0000528
- Atresia of the external auditory canal HP:0000413
- Cryptorchidism HP:0000028
- Cupped ear HP:0000378
- Downslanted palpebral fissures HP:0000494
- Downturned corners of mouth HP:0002714
- Epicanthus HP:0000286
- Global developmental delay HP:0001263
- High forehead HP:0000348
- Hypertelorism HP:0000316
- Muscular hypotonia HP:0001252
- Optic nerve aplasia HP:0012521
- Posteriorly rotated ears HP:0000358
- Preauricular skin tag HP:0000384
- Proptosis HP:0000520
- Ptosis HP:0000508
- Scrotal hypoplasia HP:0000046
- Short stature HP:0004322
Very frequent
- Agenesis of corpus callosum HP:0001274
- Anterior pituitary hypoplasia HP:0010627
- Brachycephaly HP:0000248
- Diabetes insipidus HP:0000873
- Malar flattening HP:0000272
- Micrognathia HP:0000347
- Underdeveloped nasal alae HP:0000430
- Ventriculomegaly HP:0002119
Frequent
- Adrenal hypoplasia HP:0000835
- Bilateral single transverse palmar creases HP:0007598
- Clinodactyly of the 5th finger HP:0004209
- Decreased fetal movement HP:0001558
- Delayed skeletal maturation HP:0002750
- Finger syndactyly HP:0006101
- Hearing impairment HP:0000365
- Renal hypoplasia HP:0000089
- Short 4th metacarpal HP:0010044
- Short 5th metacarpal HP:0010047
- Short foot HP:0001773
- Short palm HP:0004279
- Toe syndactyly HP:0001770
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.