Clinical Signs and Symptoms
ORPHA:1606 1p36 deletion 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.
- Absent speech HP:0001344
- Agenesis of corpus callosum HP:0001274
- Brachydactyly HP:0001156
- Camptodactyly of finger HP:0100490
- Cerebral cortical atrophy HP:0002120
- Deeply set eye HP:0000490
- Delayed speech and language development HP:0000750
- EEG abnormality HP:0002353
- Failure to thrive HP:0001508
- Gait disturbance HP:0001288
- Global developmental delay HP:0001263
- Horizontal eyebrow HP:0011228
- Hypotonia HP:0001252
- Intellectual disability HP:0001249
- Long philtrum HP:0000343
- Midface retrusion HP:0011800
- Neurological speech impairment HP:0002167
- Pointed chin HP:0000307
- Poor speech HP:0002465
- Short foot HP:0001773
- Ventriculomegaly HP:0002119
- Wide nasal bridge HP:0000431
Very frequent
- Abnormal eyebrow morphology HP:0000534
- Abnormality of cardiovascular system morphology HP:0030680
- Abnormality of vision HP:0000504
- Atypical behavior HP:0000708
- Autism HP:0000717
- Brachycephaly HP:0000248
- Clinodactyly of the 5th finger HP:0004209
- Constipation HP:0002019
- Delayed cranial suture closure HP:0000270
- Depressed nasal bridge HP:0005280
- Depressed nasal ridge HP:0000457
- Dysphagia HP:0002015
- Epicanthus HP:0000286
- Feeding difficulties in infancy HP:0008872
- Gastroesophageal reflux HP:0002020
- High hypermetropia HP:0008499
- Low-set, posteriorly rotated ears HP:0000368
- Microcephaly HP:0000252
- Narrow mouth HP:0000160
- Seizure HP:0001250
- Self-injurious behavior HP:0100716
- Stereotypy HP:0000733
- Strabismus HP:0000486
Frequent
- 11 pairs of ribs HP:0000878
- Abnormal blistering of the skin HP:0008066
- Abnormal cardiac septum morphology HP:0001671
- Abnormal heart valve morphology HP:0001654
- Abnormal intestine morphology HP:0002242
- Abnormality of female external genitalia HP:0000055
- Abnormality of the anus HP:0004378
- Abnormality of the immune system HP:0002715
- Abnormality of the kidney HP:0000077
- Abnormality of the liver HP:0001392
- Abnormality of the neck HP:0000464
- Abnormality of the spleen HP:0001743
- Annular pancreas HP:0001734
- Bifid ribs HP:0000892
- Cataract HP:0000518
- Conductive hearing impairment HP:0000405
- Cranial nerve paralysis HP:0006824
- Cryptorchidism HP:0000028
- Dilatation of the aortic arch HP:0005113
- Dilated cardiomyopathy HP:0001644
- Foot polydactyly HP:0001829
- Frontal bossing HP:0002007
- Generalized hirsutism HP:0002230
- Hemiplegia/hemiparesis HP:0004374
- Hepatic steatosis HP:0001397
- Hip dysplasia HP:0001385
- Hydronephrosis HP:0000126
- Hypogonadism HP:0000135
- Hypoplasia of penis HP:0008736
- Hypospadias HP:0000047
- Hypothyroidism HP:0000821
- Joint stiffness HP:0001387
- Kyphosis HP:0002808
- Lower limb asymmetry HP:0100559
- Macule HP:0012733
- Microtia HP:0008551
- Myopathy HP:0003198
- Neuroblastoma HP:0003006
- Nystagmus HP:0000639
- Obesity HP:0001513
- Ocular albinism HP:0001107
- Optic atrophy HP:0000648
- Patent ductus arteriosus HP:0001643
- Polyphagia HP:0002591
- Pyloric stenosis HP:0002021
- Renal cyst HP:0000107
- Rib fusion HP:0000902
- Scoliosis HP:0002650
- Sensorineural hearing impairment HP:0000407
- Short stature HP:0004322
- Spinal canal stenosis HP:0003416
- Telangiectasia HP:0001009
- Tetralogy of Fallot HP:0001636
- Visual impairment HP:0000505
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.