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Ectodermal dysplasia with intellectual disability and syndactyly

MedGen UID:
322135
Concept ID:
C1833169
Disease or Syndrome
Synonyms: Ectodermal dysplasia mental retardation syndactyly; Ectodermal dysplasia with mental retardation and syndactyly
 
Monarch Initiative: MONDO:0010955
OMIM®: 600906

Clinical features

From HPO
3-4 finger syndactyly
MedGen UID:
346463
Concept ID:
C1856889
Finding
Syndactyly with fusion of fingers three and four.
2-3 toe syndactyly
MedGen UID:
1645640
Concept ID:
C4551570
Congenital Abnormality
Syndactyly with fusion of toes two and three.
Ear malformation
MedGen UID:
75618
Concept ID:
C0266589
Congenital Abnormality
An abnormality of the ear.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Open mouth
MedGen UID:
116104
Concept ID:
C0240379
Finding
A facial appearance characterized by a permanently or nearly permanently opened mouth.
Sparse eyebrow
MedGen UID:
371332
Concept ID:
C1832446
Finding
Decreased density/number of eyebrow hairs.
Long palpebral fissure
MedGen UID:
340300
Concept ID:
C1849340
Finding
Distance between medial and lateral canthi is more than two standard deviations above the mean for age (objective); or, apparently increased length of the palpebral fissures.
Wide nasal bridge
MedGen UID:
341441
Concept ID:
C1849367
Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
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.
Hypohidrosis
MedGen UID:
43796
Concept ID:
C0020620
Disease or Syndrome
Abnormally diminished capacity to sweat.
Dry skin
MedGen UID:
56250
Concept ID:
C0151908
Sign or Symptom
Skin characterized by the lack of natural or normal moisture.
Aplasia cutis congenita of scalp
MedGen UID:
343411
Concept ID:
C1855698
Congenital Abnormality
A developmental defect resulting in the congenital absence of skin on the scalp.
Onychogryposis of toenails
MedGen UID:
870241
Concept ID:
C4024679
Anatomical Abnormality
Thickened toenails.

Recent clinical studies

Etiology

Nanda A, AlLafi A, Wolf S, AlMasry IM, Betz R
Dermatol Online J 2021 Nov 15;27(11) doi: 10.5070/D3271156088. PMID: 35130400
Sathishkumar D, Ogboli M, Moss C
Clin Exp Dermatol 2020 Dec;45(8):994-1002. Epub 2020 Jul 18 doi: 10.1111/ced.14331. PMID: 32501579
Raykova D, Klar J, Azhar A, Khan TN, Malik NA, Iqbal M, Tariq M, Baig SM, Dahl N
PLoS One 2014;9(4):e93607. Epub 2014 Apr 8 doi: 10.1371/journal.pone.0093607. PMID: 24714551Free PMC Article
Prontera P, Garelli E, Isidori I, Mencarelli A, Carando A, Silengo MC, Donti E
Am J Med Genet A 2011 Nov;155A(11):2746-9. Epub 2011 Oct 11 doi: 10.1002/ajmg.a.34270. PMID: 21990121
Silengo M, Silvestro L, Capizzi G, Lerone M, Seri M, Rosaia L, Romeo G
J Med Genet 1998 Feb;35(2):157-8. doi: 10.1136/jmg.35.2.157. PMID: 9507398Free PMC Article

Diagnosis

Sathishkumar D, Ogboli M, Moss C
Clin Exp Dermatol 2020 Dec;45(8):994-1002. Epub 2020 Jul 18 doi: 10.1111/ced.14331. PMID: 32501579
Elhamouly Y, Dowidar KM
Spec Care Dentist 2019 Mar;39(2):236-240. Epub 2019 Feb 5 doi: 10.1111/scd.12364. PMID: 30720215
Castori M, Pascolini G, Parisi V, Sana ME, Novelli A, Nürnberg P, Iascone M, Grammatico P
Am J Med Genet A 2015 Apr;167A(4):842-51. Epub 2015 Feb 23 doi: 10.1002/ajmg.a.36983. PMID: 25708316
Argenziano G, Monsurrò MR, Pazienza R, Delfino M
J Am Acad Dermatol 1998 Feb;38(2 Pt 2):344-8. doi: 10.1016/s0190-9622(98)70580-8. PMID: 9486713
Zlotogora J
J Med Genet 1994 Dec;31(12):957-9. doi: 10.1136/jmg.31.12.957. PMID: 7891379Free PMC Article

Prognosis

Zlotogora J
J Med Genet 1994 Dec;31(12):957-9. doi: 10.1136/jmg.31.12.957. PMID: 7891379Free PMC Article

Clinical prediction guides

Elhamouly Y, Dowidar KM
Spec Care Dentist 2019 Mar;39(2):236-240. Epub 2019 Feb 5 doi: 10.1111/scd.12364. PMID: 30720215
Raykova D, Klar J, Azhar A, Khan TN, Malik NA, Iqbal M, Tariq M, Baig SM, Dahl N
PLoS One 2014;9(4):e93607. Epub 2014 Apr 8 doi: 10.1371/journal.pone.0093607. PMID: 24714551Free PMC Article
Zannolli R, Buoni S, Viviano M, Macucci F, D'Ambrosio A, Livi W, Mazzei MA, Mazzei F, Sacco P, Volterrani L, Vonella G, Orsi A, Zappella M, Hayek J
J Child Neurol 2008 Jun;23(6):683-9. Epub 2008 Jan 8 doi: 10.1177/0883073807309778. PMID: 18182642

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