Macrocephaly-autism syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 13
OrphanetNr: 210548
OMIM Id: 605309
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 40 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic syndrome with a central nervous system malformation as major feature
 -Rare genetic disease
Other syndrome with a central nervous system malformation as major feature
 -Rare developmental defect during embryogenesis
 -Rare neurologic disease
Rare disease with autism
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0005490) Postnatal macrocephaly 3 / 7739
2
 (HPO:0000343) Long philtrum 262 / 7739
3
 (HPO:0004422) Biparietal narrowing 2 / 7739
4
 (HPO:0000337) Broad forehead 116 / 7739
5
 (HPO:0005280) Depressed nasal bridge 381 / 7739
6
 (HPO:0002007) Frontal bossing 366 / 7739
7
 (HPO:0003196) Short nose 264 / 7739
8
 (HPO:0000717) Autism 108 / 7739
9
 (HPO:0001263) Global developmental delay 853 / 7739
10
 (HPO:0001513) Obesity 172 / 7739
11
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
12
 (OMIM) 'Dished out' midface 2 / 7739
13
 (OMIM) Square outline 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In the course of a clinical study of Sotos syndrome (117550), Cole and Hughes (1991) found that 6 of 79 probands who failed to fit that phenotype showed remarkable similarities to each other and to some of their ...
Molecular genetics OMIM Butler et al. (2005) analyzed the PTEN gene in 18 subjects with autism spectrum disorders and macrocephaly. They identified heterozygosity for germline PTEN mutations in 3 boys: H93R (601728.0037), D252G (601728.0038), and F241S (601728.0039), respectively. One mutation-positive boy ...