Genetic syndrome or malformation associated

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Genetic syndrome or malformation associated with head and neck malformations

ORPHA:728642Category

What it is

Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.

Key facts

Classified as
Category

Genes reported in subtypes

AKT1CHD7DHODHEYA1FLNAGNAQGPC3GPC4GRHL3IRF6PIEZO2PIK3CARIPK4SCARF2SEMA3ESIX1SIX5SNRPBSOX9TP63ZBTB7A

Orphanet records these genes on 17 more specific entries under this disorder, not on this entry itself:

BOR syndromeCerebrocostomandibular syndromeCHAND syndromeCHARGE syndromeEEC syndromeHemihyperplasia-multiple lipomatosis syndromeIntellectual disability-lymphoid hypertrophy-macrocephaly syndromeIsolated Pierre Robin sequenceMarden-Walker syndromeOtopalatodigital syndrome type 1Otopalatodigital syndrome type 2Postaxial acrofacial dysostosisProteus syndromeSimpson-Golabi-Behmel syndromeSturge-Weber syndromeVan den Ende-Gupta syndromeVan der Woude syndrome

A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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