Clinical Signs and Symptoms
ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement
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
- Global developmental delay HP:0001263
Very frequent
- Abnormal facial shape HP:0001999
- Abnormality of the dentition HP:0000164
- Aggressive behavior HP:0000718
- Atypical behavior HP:0000708
- Bilateral talipes equinovarus HP:0001776
- Cleft palate HP:0000175
- Decreased testicular size HP:0008734
- Drooling HP:0002307
- Feeding difficulties in infancy HP:0008872
- High forehead HP:0000348
- High palate HP:0000218
- Hypermetropia HP:0000540
- Hypotonia HP:0001252
- Intellectual disability, severe HP:0010864
- Microcephaly HP:0000252
- Micrognathia HP:0000347
- Nasogastric tube feeding in infancy HP:0011470
- Prominent forehead HP:0011220
- Prominent nasal bridge HP:0000426
- Severe global developmental delay HP:0011344
- Sparse hair HP:0008070
Frequent
- Abnormality of the eye HP:0000478
- Abnormality of the hip bone HP:0003272
- Abnormality of the knee HP:0002815
- Abnormality of the outer ear HP:0000356
- Abnormality of upper lip vermillion HP:0011339
- Agenesis of permanent teeth HP:0006349
- Broad hallux HP:0010055
- Broad thumb HP:0011304
- Broad-based gait HP:0002136
- Clinodactyly of the 5th finger HP:0004209
- Coloboma HP:0000589
- Convex nasal ridge HP:0000444
- Cryptorchidism HP:0000028
- Dacryocystitis HP:0000620
- Deeply set eye HP:0000490
- Dental crowding HP:0000678
- Dental malocclusion HP:0000689
- Downslanted palpebral fissures HP:0000494
- Emotional lability HP:0000712
- Esodeviation HP:0020045
- External genital hypoplasia HP:0003241
- Facial asymmetry HP:0000324
- Fine hair HP:0002213
- Flat occiput HP:0005469
- Frontal bossing HP:0002007
- Generalized joint laxity HP:0002761
- Hypertonia HP:0001276
- Increased susceptibility to fractures HP:0002659
- Long face HP:0000276
- Long philtrum HP:0000343
- Low-set ears HP:0000369
- Lower limb spasticity HP:0002061
- Lumbar hyperlordosis HP:0002938
- Macrocephaly HP:0000256
- Microdontia HP:0000691
- Micropenis HP:0000054
- Morphological abnormality of the central nervous system HP:0002011
- Narrow face HP:0000275
- Narrow mouth HP:0000160
- Obstructive sleep apnea HP:0002870
- Osteopenia HP:0000938
- Pierre-Robin sequence HP:0000201
- Polyphagia HP:0002591
- Postnatal growth retardation HP:0008897
- Prominent calcaneus HP:0012428
- Relative macrocephaly HP:0004482
- Restlessness HP:0000711
- Seizure HP:0001250
- Self-mutilation HP:0000742
- Short foot HP:0001773
- Short neck HP:0000470
- Short nose HP:0003196
- Short philtrum HP:0000322
- Slender finger HP:0001238
- Small hand HP:0200055
- Talipes equinovarus HP:0001762
- Tibial bowing HP:0002982
- Ventricular septal defect HP:0001629
- Wide nose HP:0000445
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.