Dinno syndrome

Classification according to ICD-10
Q79.8	Other congenital malformations of the musculoskeletal system
ICD-10 online (WHO version 2019)

The Dinno syndrome is a very rare congenital disease with the main features contractures , pterygium colli (pterygium by the neck), micrognathia and hypoplasia of the nipples .

Synonyms are: contractures-pterygium colli-micrognathia-hypoplastic nipple syndrome; english Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome

The name refers to the first author of the first description from 1976 by Dinno and Weisskopf . Quoted from

distribution

The frequency is given as less than 1 in 1,000,000, so far only two patients have been known.

Clinical appearance

Clinical criteria are:

Individual evidence

↑ ^a ^b Contractures-pterygium colli-micrognathia-hypoplastic nipple syndrome. In: Orphanet (Rare Disease Database).
↑ Dinno, Weisskopf, In: Syndrome Identification Vol. 4, 1976, pp. 10-12.
↑ ^a ^b N. Wall, J. McGaughran: A second case of contractures, webbed neck, micrognathia, hypoplastic nipples, and distinctive facial features: confirmation of the Dinno syndrome. In: American journal of medical genetics. Part A. Vol. 158A, No. 4, April 2012, pp. 836-838, doi: 10.1002 / ajmg.a.35224 , PMID 22383252 .

[Orpha-1] Contractures-pterygium colli-micrognathia-hypoplastic nipple syndrome. In: Orphanet (Rare Disease Database).

[2] Dinno, Weisskopf, In: Syndrome Identification Vol. 4, 1976, pp. 10-12.

[Wall-3] N. Wall, J. McGaughran: A second case of contractures, webbed neck, micrognathia, hypoplastic nipples, and distinctive facial features: confirmation of the Dinno syndrome. In: American journal of medical genetics. Part A. Vol. 158A, No. 4, April 2012, pp. 836-838, doi: 10.1002 / ajmg.a.35224 , PMID 22383252 .