Information on Macrocephaly/autism syndrome
Basic details
Name: Macrocephaly/autism syndrome | Acronym:
Alt. names:
Gene: PTEN | MOI: Autosomal dominant | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2005
Last updated on: 2023-02-28 16:41:18 by
Description
Surveillance is indicated to screen for the presence of neoplasms (including regular thyroid ultrasound, dermatologic examinations, breast screening including mammogram and/or MRI, transvaginal ultrasound and/or endometrial biopsy, colonoscopy, renal imaging, and other screening as specifically indicated by family or personal medical history), which may allow early diagnosis and treatment, which may be beneficial related to morbidity and mortality. Evidence for association with some cancerous processes is unclear,and the division into many separate disorders is likely specious. Refs. PMIDs: 5345120; 5091590; 957004; 7449178; 7079022; 6881215; 6507473; 3707175; 3698331; 3340479; 1336932; 1350505; 8207516; 9140396; 9286463; 9399897; 9241266; 9259288; 9545417; 9662392; 9832032; 9832031; 9425889; 9445133; 9856571; 10353779; 10400993; 10234502; 11238682; 11748304; 12085208; 11875759; 12938083; 14518069; 12833416; 14566704; 15805158; 16704655; 16752378; 17286265; 17526800; 17526801; 17847000; 18781191; 21659347; 21633361; 20301661; 21956414; 22595938; 22970944; 23335809; 23344409
Management
Description of management option has not been reviewed yet.
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
0 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical term | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Autism |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Infantile onset |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Postnatal macrocephaly |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Delayed speech and language development |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 5 | Global developmental delay |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 6 | Penile freckling |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 7 | Prominent forehead |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 8 | Coarse hair |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 9 | Cutis laxa |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 10 | Depressed nasal bridge |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 11 | Perivascular spaces |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 12 | Epicanthus |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 13 | High palate |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 14 | Hydrocele testis |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 15 | Muscular hypotonia |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 16 | Joint hypermobility |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 17 | Large for gestational age |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 18 | Midface retrusion |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 19 | Overgrowth |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 20 | Recurrent otitis media |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 21 | Short attention span |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 22 | Speech apraxia |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.