Genetic and developmental anomalies

• HHT2
  6 January 2011

  Hereditary hemorrhagic telangiectasia type 2

• Bazex syndrome
  6 January 2011

  Bazex syndrome is an X-linked dominant disorder characterized by a triad of congenital hypotrichosis, follicular atrophoderma affecting the dorsa of the hands and feet, the face, and extensor surfaces of the elbows or knees, and the development of basal cell neoplasms, including basal cell nevi and basal cell carcinomas from the second decade onward.
  References
  Yung, A., Newton-Bishop, J. A. A case of Bazex-Dupre-Christol syndrome associated with multiple genital trichoepitheliomas. (...)

• BMPR1A-associated Cowden-like syndrome
  19 November 2010

  Germline mutations in BMPR1A (ALK3) cause a subset of cases of Cowden syndromes. (#11536076#)
  See also
  BMPR1A gene (MIM.601299)
  References
  Large genomic deletions of SMAD4, BMPR1A and PTEN in juvenile polyposis. van Hattem WA, Brosens LA, de Leng WW, Morsink FH, Lens S, Carvalho R, Giardiello FM, Offerhaus GJ. Gut. 2008 May;57(5):623-7. PMID: #18178612#
  Vessels’ morphology in SMAD4 and BMPR1A-related juvenile polyposis. Handra-Luca A, Condroyer C, de Moncuit C, Tepper M, Fléjou JF, (...)

• monogenic malformative diseases
  31 October 2010

  References
  Genetics and human malformations. Mues G, Kapadia H, Wang Y, D’Souza RN. J Craniofac Surg. 2009 Sep;20 Suppl 2:1652-4. PMID: #19816326# [Free]

• Van Den Ende-Gupta syndrome
  30 October 2010

  Definition: Van Den Ende-Gupta syndrome (VDEGS) is an extremely rare autosomal-recessive disorder characterized by distinctive craniofacial features, which include blepharophimosis, malar and/or maxillary hypoplasia, a narrow and beaked nose, and an everted lower lip. Other features are arachnodactyly, camptodactyly, peculiar skeletal abnormalities, and normal development and intelligence.
  Etiology
  germline mutations of SCARF2 in Van Den Ende-Gupta syndrome (VDEGS) SCARF2 contains (...)

• Warburg Micro syndrome
  30 October 2010

  Definition: Warburg Micro syndrome and Martsolf syndrome are clinically overlapping autosomal recessive conditions characterized by congenital cataracts, microphthalmia, postnatal microcephaly, and developmental delay.
  The neurodevelopmental and ophthalmological phenotype is more severe in Warburg Micro syndrome in which cerebral malformations and severe motor and mental retardation are common.
  While biallelic loss-of-function mutations in RAB3GAP1 are present in the majority of patients (...)

• neuropsychiatric phenomics
  22 September 2010

  References
  Cognitive ontologies for neuropsychiatric phenomics research. Bilder RM, Sabb FW, Parker DS, Kalar D, Chu WW, Fox J, Freimer NB, Poldrack RA. Cogn Neuropsychiatry. 2009;14(4-5):419-50. PMID: #19634038#
  Phenomics: the systematic study of phenotypes on a genome-wide scale. Bilder RM, Sabb FW, Cannon TD, London ED, Jentsch JD, Parker DS, Poldrack RA, Evans C, Freimer NB. Neuroscience. 2009 Nov 24;164(1):30-42. PMID: (...)

• MMR-associated pediatric tumoral predisposition
  17 September 2010

  MMR-associated childhood cancer syndrome

• Dursun syndrome
  30 August 2010

  Synopsis
  pulmonary arterial hypertension
  cardiac abnormalities secundum-type atrial septal defect
  hematologic abnormalities intermittent neutropenia lymphopenia monocytosis anemia marked thymic involution
  pectus carinatum
  long fingers proximally placed thumb,
  broad nasal bridge
  high-arched palate
  bilateral inguinal hernias
  undescended testes
  Etiology
  Mutations in the G6PC3 gene in Dursun syndrome. (#20799326#)
  References
  Mutations in the G6PC3 gene cause Dursun (...)

• Legius syndrome
  24 August 2010

  Synopsis
  Macrocephaly (less common)
  Noonan-like facies in a minority of patients
  Triangular face with age
  Low-set ears
  posteriorly rotated ears
  Ptosis
  Hypertelorism
  Down-slanting palpebral fissures
  Epicanthal folds
  Deeply grooved philtrum
  High peaks of upper lip vermilion border
  High arched palate
  Micrognathia
  Cafe-au-lait spots
  Axillary freckling
  Lipomas
  Learning difficulties
  No neurofibromas
  Behavioral/psychiatric manifestations
  Attention (...)

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