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EEM syndrome(EEMS)

MedGen UID:
341679
Concept ID:
C1857041
Congenital Abnormality; Disease or Syndrome
Synonyms: Ectodermal dysplasia, ectrodactyly, and macular dystrophy; EEMS
SNOMED CT: Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (720856002); EEM (ectodermal dysplasia, ectrodactyly, macular dystrophy) syndrome (720856002); EEM syndrome (720856002)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): CDH3 (16q22.1)
 
Monarch Initiative: MONDO:0009155
OMIM®: 225280
Orphanet: ORPHA1897

Definition

EEM syndrome denotes a disorder characterized by ectodermal dysplasia, ectrodactyly, and macular dystrophy. The ectodermal dysplasia consists of hypotrichosis affecting scalp hair, eyebrows, and eyelashes, with partial anodontia. Different degrees of absence deformities as well as syndactyly have been described, the hands often being more severely affected than the feet. The retinal lesion appears as a central geographic atrophy of the retinal pigment epithelium and choriocapillary layer of the macular area with coarse hyperpigmentations and sparing of the larger choroidal vessels (summary by Kjaer et al., 2005). [from OMIM]

Clinical features

From HPO
2-3 finger syndactyly
MedGen UID:
96573
Concept ID:
C0432055
Congenital Abnormality
Syndactyly with fusion of fingers two and three.
3-4 toe syndactyly
MedGen UID:
371723
Concept ID:
C1834062
Finding
Syndactyly with fusion of toes three and four.
3-4 finger syndactyly
MedGen UID:
346463
Concept ID:
C1856889
Finding
Syndactyly with fusion of fingers three and four.
Split hand
MedGen UID:
397570
Concept ID:
C2699510
Congenital Abnormality
A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middel fingers as far as oligo- or monodactyl hands.
2-4 finger syndactyly
MedGen UID:
866881
Concept ID:
C4021236
Anatomical Abnormality
Syndactyly with fusion of the fingers two to four.
1-4 finger syndactyly
MedGen UID:
869303
Concept ID:
C4023729
Congenital Abnormality
Syndactyly with fusion of fingers one to four.
Joint contracture of the hand
MedGen UID:
56382
Concept ID:
C0158113
Finding
Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue.
Camptodactyly
MedGen UID:
195780
Concept ID:
C0685409
Congenital Abnormality
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension.
Microdontia
MedGen UID:
66008
Concept ID:
C0240340
Congenital Abnormality
Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth.
Sparse eyebrow
MedGen UID:
371332
Concept ID:
C1832446
Finding
Decreased density/number of eyebrow hairs.
Widely spaced teeth
MedGen UID:
337093
Concept ID:
C1844813
Finding
Increased spaces (diastemata) between most of the teeth in the same dental arch.
Sparse scalp hair
MedGen UID:
346499
Concept ID:
C1857042
Finding
Decreased number of hairs per unit area of skin of the scalp.
Selective tooth agenesis
MedGen UID:
370882
Concept ID:
C1970308
Congenital Abnormality
Agenesis specifically affecting one of the classes incisor, premolar, or molar.
Ectodermal dysplasia
MedGen UID:
8544
Concept ID:
C0013575
Disease or Syndrome
Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands.
Sparse eyelashes
MedGen UID:
375151
Concept ID:
C1843300
Finding
Decreased density/number of eyelashes.
Macular dystrophy
MedGen UID:
196451
Concept ID:
C0730292
Disease or Syndrome
Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEEM syndrome
Follow this link to review classifications for EEM syndrome in Orphanet.

Recent clinical studies

Etiology

Balarin Silva V, Simões AM, Marques-de-Faria AP
Ophthalmic Genet 1999 Jun;20(2):95-9. doi: 10.1076/opge.20.2.95.2290. PMID: 10420194
Hayakawa M, Yanashima K, Kato K, Nakajima A, Yamauchi H
Ophthalmic Paediatr Genet 1989 Dec;10(4):287-92. doi: 10.3109/13816818909009884. PMID: 2628819

Diagnosis

Hayakawa M, Yanashima K, Kato K, Nakajima A, Yamauchi H
Ophthalmic Paediatr Genet 1989 Dec;10(4):287-92. doi: 10.3109/13816818909009884. PMID: 2628819

Prognosis

Balarin Silva V, Simões AM, Marques-de-Faria AP
Ophthalmic Genet 1999 Jun;20(2):95-9. doi: 10.1076/opge.20.2.95.2290. PMID: 10420194
Hayakawa M, Yanashima K, Kato K, Nakajima A, Yamauchi H
Ophthalmic Paediatr Genet 1989 Dec;10(4):287-92. doi: 10.3109/13816818909009884. PMID: 2628819

Clinical prediction guides

Balarin Silva V, Simões AM, Marques-de-Faria AP
Ophthalmic Genet 1999 Jun;20(2):95-9. doi: 10.1076/opge.20.2.95.2290. PMID: 10420194

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