BRESEK syndrome

MedGen UID:: 502868
•Concept ID:: C3502469
•: Disease or Syndrome

Synonyms:	Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia; Bresek Syndrome; Bresheck Syndrome
SNOMED CT:	Brain anomaly, severe mental retardation, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome (717945001); BRESEK syndrome (717945001); X-linked mental retardation Reish type (717945001); Brain anomaly, severe intellectual disability, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome (717945001); BRESEK (brain anomaly, severe mental retardation, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia) syndrome (717945001)
Modes of inheritance:	X-linked dominant inheritance MedGen UID: 376232 •Concept ID: C1847879 • Finding Source: Orphanet A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation. See: This record X-linked dominant inheritance (Orphanet)

Monarch Initiative:	MONDO:0019414
Orphanet:	ORPHA85284

Definition

X-linked syndrome with characteristics of brain anomalies, severe intellectual disability, ectodermal dysplasia, skeletal deformities (vertebral anomalies, scoliosis, polydactyly), ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome). It has been described in two brothers, one of who died shortly after birth. One of the brothers also had Hirschsprung disease and Cleft palate/cryptorchidism (giving the acronym: BRESHECK syndrome). Transmission is X-linked dominant. [from SNOMEDCT_US]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVBRESEK syndrome

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
- BRESEK syndrome

Recent clinical studies

Diagnosis

Expanding the phenotype of IFAP/BRESECK syndrome: a new case with severe hypogammaglobulinemia.

Corujeira S, Águeda S, Monteiro G, Canelhas A, Sampaio M, Rocha R, Leão M
Eur J Med Genet 2013 Nov;56(11):603-5. Epub 2013 Sep 30 doi: 10.1016/j.ejmg.2013.09.005. PMID: 24090718

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BRESEK syndrome

Definition

Term Hierarchy

Recent clinical studies

Diagnosis

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