Teebi-al-Saleh-Hassoon syndrome

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Classification according to ICD-10
Q87.0 Congenital malformation syndromes with predominant involvement of the face
ICD-10 online (WHO version 2019)

The Teebi-al-Saleh Hassoon syndrome is a rare, lethal running congenital disease with the main features of a macrosomia , microphthalmia and cleft palate .

Synonyms are: macrosomia - microphthalmia - cleft palate; English Macrosomia with Microphthalmia, lethal; Macrosomia microphthalmia cleft palate .

The name refers to the authors of the first description from 1989 by the human geneticist Ahmad S. Teebi and colleagues.

The disease belongs to the syndromic microphthalmias and should not be confused with Lubani-al-Saleh-Teebi syndrome (cystic fibrosis with gastritis and megaloblastic anemia)

distribution

The frequency is given as less than 1 in 1,000,000, mode of inheritance and cause are not known.

Clinical manifestations

So far, only one family has been described with several children with macrosomia, pronounced microphthalmia and death in early childhood due to respiratory infections.

Individual evidence

  1. ↑ a b Macrosomia - Microphthalmia - Cleft Palate. In: Orphanet (Rare Disease Database).
  2. ^ A b A. S. Teebi, QA al-Saleh, MM Hassoon, TI Farag, SA al-Awadi: Macrosomia, microphthalmia, +/- cleft palate and early infant death: a new autosomal recessive syndrome. In: Clinical genetics. Vol. 36, No. 3, September 1989, pp. 174-177, PMID 2791331 .
  3. ^ Rare Diseases
  4. ↑ Cystic fibrosis with gastritris and megaloblastic anemia. In: Orphanet (Rare Disease Database).
  5. ↑ MACROSOMIA WITH MICROPHTHALMIA, LETHAL.  In: Online Mendelian Inheritance in Man . (English)

Web links