Malformative associations

• split-hand/foot malformation with long bone deficiency type 1
  1 November 2007

  association tibial agenesis-ectrodactyly, split-hand/foot malformation with long bone deficiency type 1 (SHFLD1)

• cleft palate, cardiac defect, genital anomalies and ectrodactyly
  1 November 2007

  CCGE, ACFS, acrocardiofacial syndrome, acro-cardio-facial syndrome

• association fatal lung fibrosis-immunodeficiency-gonadal dysgenesis
  19 October 2007

  References
  Somech R, Somers GR, Chitayat D, Grunebaum E, Atkinson A, Kolomietz E, Roifman CM. Fatal lung fibrosis associated with immunodeficiency and gonadal dysgenesis in 46XX sisters-A new syndrome. Am J Med Genet A. 2007 Oct 15; PMID: #17937424#

• association heterotaxy-multiple midline anomalies
  5 October 2007

  Synopsis
  polyhydramnios
  multiple congenital anomalies
  multiple defects of blastogenesis
  midline anomalies
  asplenia
  abnormalities of laterality formation (heterotaxy)
  hypoplastic, symmetrically unilobate lungs
  bilateral hyparterial bronchi (more consistent with polysplenia)
  abdominal situs inversus
  midline stomach
  symmetric liver
  left gallbladder
  azygous continuation of the inferior vena cava
  multiple defects
  bronchoesophageal fistula
  duodenal atresia (...)

• MCA/MR
  12 September 2007

  multiple congenital anomaly/mental retardation

• omphalocele, short limbs, and macrogonadism
  31 August 2007

  exomphalos, short limbs, and macrogonadism

• omphalocele with absent radial ray complex
  28 August 2007

  omphalocele with absent radial ray (ORR), omphalocele-radial ray aplasia association

• intestinal atresia with apple-peel syndrome, ocular anomalies, and microcephaly syndrome
  5 August 2007

  See also
  Feingold syndrome (NMYC haploinsufficiency)
  References
  Bellini C, Mazzella M, Arioni C, Fondelli MP, Serra G. "Apple-peel" intestinal atresia, ocular anomalies, and microcephaly syndrome: brain magnetic resonance imaging study. Am J Med Genet. 2002 Jun 15;110(2):176-8. PMID: #12116257#

• severe combined immunodeficiency syndrome with autosomal recessive familial multiple gastrointestinal atresias
  5 August 2007

  SCID with autosomal recessive familial multiple gastrointestinal atresias

• neonatal diabetes with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia
  4 August 2007

  Synopsis
  neonatal diabetes mellitus
  pancreatic hypoplasia (hypoplastic pancreas)
  intestinal atresia
  gall bladder hypoplasia
  References
  Mitchell J, Punthakee Z, Lo B, Bernard C, Chong K, Newman C, Cartier L, Desilets V, Cutz E, Hansen IL, Riley P, Polychronakos C. Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome. Diabetologia. 2004 Dec;47(12):2160-7. PMID: (...)

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