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Flat sella turcica

MedGen UID:
Concept ID:
HPO: HP:0100857


An abnormally flat sella turcica. [from HPO]

Term Hierarchy

Conditions with this feature

Oto-palato-digital syndrome, type II
MedGen UID:
Concept ID:
Disease or Syndrome
The X-linked otopalatodigital (X-OPD) spectrum disorders, characterized primarily by skeletal dysplasia, include the following: Otopalatodigital syndrome type 1 (OPD1). Otopalatodigital syndrome type 2 (OPD2). Frontometaphyseal dysplasia type 1 (FMD1). Melnick-Needles syndrome (MNS). Terminal osseous dysplasia with pigmentary skin defects (TODPD). In OPD1, most manifestations are present at birth; females can present with severity similar to affected males, although some have only mild manifestations. In OPD2, females are less severely affected than related affected males. Most males with OPD2 die during the first year of life, usually from thoracic hypoplasia resulting in pulmonary insufficiency. Males who live beyond the first year of life are usually developmentally delayed and require respiratory support and assistance with feeding. In FMD1, females are less severely affected than related affected males. Males do not experience a progressive skeletal dysplasia but may have joint contractures and hand and foot malformations. Progressive scoliosis is observed in both affected males and females. In MNS, wide phenotypic variability is observed; some individuals are diagnosed in adulthood, while others require respiratory support and have reduced longevity. MNS in males results in perinatal lethality in all recorded cases. TODPD, seen only in females, is characterized by a skeletal dysplasia that is most prominent in the digits, pigmentary defects of the skin, and recurrent digital fibromata.
Microcephalic osteodysplastic primordial dwarfism, type 3
MedGen UID:
Concept ID:
Disease or Syndrome
Cutis laxa, autosomal dominant 3
MedGen UID:
Concept ID:
Disease or Syndrome
Autosomal dominant cutis laxa-3 is characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, and moderate intellectual disability. In addition, patients exhibit a combination of muscular hypotonia with brisk muscle reflexes (Fischer-Zirnsak et al., 2015). For a general phenotypic description and discussion of genetic heterogeneity of autosomal dominant cutis laxa, see ARCL1 (123700).

Recent clinical studies


Lamine F, Kanoun F, Chihaoui M, Saveanu A, Menif E, Barlier A, Enjalbert A, Brue T, Slimane H
Pituitary 2012 Dec;15 Suppl 1:S81-6. doi: 10.1007/s11102-012-0411-y. PMID: 22797803

Clinical prediction guides

Sobrier ML, Maghnie M, Vié-Luton MP, Secco A, di Iorgi N, Lorini R, Amselem S
J Clin Endocrinol Metab 2006 Nov;91(11):4528-36. Epub 2006 Aug 29 doi: 10.1210/jc.2006-0426. PMID: 16940453

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