Clinical Signs and Symptoms
ORPHA:468678 White-Sutton 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.
- Global developmental delay HP:0001263
- Intellectual disability HP:0001249
Very frequent
- Abnormal facial shape HP:0001999
- Abnormality of the gastrointestinal tract HP:0011024
- Autistic behavior HP:0000729
- Delayed speech and language development HP:0000750
- Feeding difficulties HP:0011968
- Feeding difficulties in infancy HP:0008872
- Hyperactivity HP:0000752
- Hypermetropia HP:0000540
- Hypertelorism HP:0000316
- Infantile muscular hypotonia HP:0008947
- Intellectual disability, mild HP:0001256
- Microcephaly HP:0000252
- Obesity HP:0001513
- Severe expressive language delay HP:0006863
- Short stature HP:0004322
- Sleep disturbance HP:0002360
- Visual impairment HP:0000505
Frequent
- Abnormality of the outer ear HP:0000356
- Absent speech HP:0001344
- Aggressive behavior HP:0000718
- Astigmatism HP:0000483
- Brachycephaly HP:0000248
- Chronic constipation HP:0012450
- EEG abnormality HP:0002353
- Gastroesophageal reflux HP:0002020
- Intellectual disability, severe HP:0010864
- Midface retrusion HP:0011800
- Myopia HP:0000545
- Narrow mouth HP:0000160
- Open mouth HP:0000194
- Pointed chin HP:0000307
- Rod-cone dystrophy HP:0000510
- Seizures HP:0001250
- Sensorineural hearing impairment HP:0000407
- Stereotypy HP:0000733
- Strabismus HP:0000486
- Thin upper lip vermilion HP:0000219
Occasional
- Abnormal heart morphology HP:0001627
- Blindness HP:0000618
- Broad nasal tip HP:0000455
- Cerebellar atrophy HP:0001272
- Cerebral cortical atrophy HP:0002120
- Congenital diaphragmatic hernia HP:0000776
- Delayed CNS myelination HP:0002188
- Delayed myelination HP:0012448
- Depressed nasal bridge HP:0005280
- Downturned corners of mouth HP:0002714
- Duplicated collecting system HP:0000081
- Enlarged cisterna magna HP:0002280
- Facial hypotonia HP:0000297
- Febrile seizures HP:0002373
- Focal impaired awareness seizure HP:0002384
- High palate HP:0000218
- Hypoplasia of the corpus callosum HP:0002079
- Hypoplasia of the pons HP:0012110
- Incoordination HP:0002311
- Inguinal hernia HP:0000023
- Iris coloboma HP:0000612
- Joint laxity HP:0001388
- Malar flattening HP:0000272
- Obsessive-compulsive behavior HP:0000722
- Obstructive sleep apnea HP:0002870
- Optic atrophy HP:0000648
- Posteriorly rotated ears HP:0000358
- Self-injurious behavior HP:0100716
- Short neck HP:0000470
- Short philtrum HP:0000322
- Subcortical cerebral atrophy HP:0012157
- Ventral hernia HP:0002933
- Vitiligo HP:0001045
Rare
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.