Clinical Signs and Symptoms
ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax 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.
- Intellectual disability HP:0001249
- Macrocephaly HP:0000256
- Megalencephaly HP:0001355
Very frequent
- Abnormal facial shape HP:0001999
- Curly hair HP:0002212
- Focal seizures, afebril HP:0040168
- Frontal bossing HP:0002007
- Generalized-onset seizure HP:0002197
- Global developmental delay HP:0001263
- Large for gestational age HP:0001520
- Neurological speech impairment HP:0002167
- Seizures HP:0001250
- Specific learning disability HP:0001328
- Ventriculomegaly HP:0002119
Frequent
- Abnormal corpus callosum morphology HP:0001273
- Asthma HP:0002099
- Autistic behavior HP:0000729
- Cafe-au-lait spot HP:0000957
- Capillary malformation HP:0025104
- Cryptorchidism HP:0000028
- Diastasis recti HP:0001540
- Gait disturbance HP:0001288
- Hemangioma HP:0001028
- Hyperactivity HP:0000752
- Hypertelorism HP:0000316
- Hypopigmented skin patches HP:0001053
- Lactose intolerance HP:0004789
- Long philtrum HP:0000343
- Muscular hypotonia HP:0001252
- Open mouth HP:0000194
- Pes planus HP:0001763
- Polymicrogyria HP:0002126
- Prominent forehead HP:0011220
- Protuberant abdomen HP:0001538
- Strabismus HP:0000486
- Thoracic hypoplasia HP:0005257
- Wide mouth HP:0000154
Occasional
- Allergy HP:0012393
- Decreased circulating IgA level HP:0002720
- Depressed nasal bridge HP:0005280
- Downslanted palpebral fissures HP:0000494
- Hypospadias HP:0000047
- Intestinal polyp HP:0005266
- Neonatal hypoglycemia HP:0001998
- Short chin HP:0000331
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.