raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:2292

OBSOLETE: Congenital bowing of long bones-short stature-dolichomacrocephaly-ocular hypertelorism syndrome

inactive · referred to ORPHA:93439Campomelic dysplasia and related disorders

Type
Malformation syndrome
Group
Disorder
Status
inactive
Flag
Obsolete entity

This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>Instead, consider using Campomelic dysplasia and related disorders

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enOBSOLETE: Congenital bowing of long bones-short stature-dolichomacrocephaly-ocular hypertelorism syndrome
frOBSOLETE : Syndrome d'incurvation congénitale des os longs-petite taille-dolichomacrocéphalie-hypertélorisme oculaireOBSOLETE : Incurvation des os longs
deOBSOLET: Kongenitale Verkrümmung der Röhrenknochen-Kleinwuchs-Dolichomakrozephalie-okulärer Hypertelorismus-Syndrom
esOBSOLETO: Síndrome de incurvación congénita de huesos largos-talla baja-dolicomacrocefalia-hipertelorismo ocular
itOBSOLETO: Sindrome da incurvamento congenito delle ossa lunghe-bassa statura-dolicomacrocefalia-ipertelorismo oculare
nlOBSOLEET: Congenitale kromstand van pijpbeenderen - kleine gestalte - dolichomacrocefalie - oculair hypertelorisme-syndroom
ptOBSOLETO: Síndrome de encurvamento congénito dos ossos longos-baixa estatura-dolicomacrocefalia-hipertelorismo ocular
plNIEAKTUALNE: Wrodzona łukowatość kości długichNIEAKTUALNE: Wrodzony zespół wygięcia kości długich, niskiego wzrostu, dolichomakrocefalii i hiperteloryzmu ocznego
csNEAKTUÁLNÍ: Syndrom zahrnující vrozené ohnutí dlouhých kostí, malý vzrůst, dolichomakrocefalii a hypertelorismus očí
ukЗАСТАРІЛО: Синдром вродженої деформації довгих кісток - низького зросту - доліхомакроцефалії - очного гіпертелоризму
zh先天性长骨弯曲
trUzun kemiklerin doğumsal eğilmesi
2

Cross-references

qualifier = Orphanet mapping relation

No cross-references in this release.

3

Classification

Not placed in any Orphanet classification in this release.

No children.

4

Genes

0 direct

Orphanet records no gene directly on this code.

5

Prevalence and incidence

0 records

No prevalence record in this release.

6

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

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Sources for this card