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Ectodermal dysplasia with adrenal cyst

MedGen UID:
342106
•Concept ID:
C1851850
•
Disease or Syndrome
Synonyms: Ectodermal dysplasia adrenal cyst; Tuffli Laxova syndrome
 
Monarch Initiative: MONDO:0007513
OMIM®: 129550
Orphanet: ORPHA3391

Clinical features

From HPO
Delayed eruption of teeth
MedGen UID:
68678
•Concept ID:
C0239174
•
Finding
Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age.
See: Feature record | Search on this feature
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.
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Hypohidrosis
MedGen UID:
43796
•Concept ID:
C0020620
•
Disease or Syndrome
Abnormally diminished capacity to sweat.
See: Feature record | Search on this feature
Nail dysplasia
MedGen UID:
331737
•Concept ID:
C1834405
•
Congenital Abnormality
The presence of developmental dysplasia of the nail.
See: Feature record | Search on this feature
Abnormality of the endocrine system
MedGen UID:
893021
•Concept ID:
C4025823
•
Anatomical Abnormality
An abnormality of the endocrine system.
See: Feature record | Search on this feature
Breast hypoplasia
MedGen UID:
75594
•Concept ID:
C0266013
•
Congenital Abnormality
Underdevelopment of the breast.
See: Feature record | Search on this feature
Hypoplastic nipples
MedGen UID:
98156
•Concept ID:
C0432355
•
Congenital Abnormality
Underdevelopment of the nipple.
See: Feature record | Search on this feature
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Recent clinical studies

Etiology

Neurocristopathies: Enigmatic Appearances of Neural Crest Cell-derived Abnormalities.
Sato TS, Handa A, Priya S, Watal P, Becker RM, Sato Y
Radiographics 2019 Nov-Dec;39(7):2085-2102. doi: 10.1148/rg.2019190086. PMID: 31697622
Cranioectodermal dysplasia: a probable ciliopathy.
Konstantinidou AE, Fryssira H, Sifakis S, Karadimas C, Kaminopetros P, Agrogiannis G, Velonis S, Nikkels PG, Patsouris E
Am J Med Genet A 2009 Oct;149A(10):2206-11. doi: 10.1002/ajmg.a.33013. PMID: 19760621

Diagnosis

Neurocristopathies: Enigmatic Appearances of Neural Crest Cell-derived Abnormalities.
Sato TS, Handa A, Priya S, Watal P, Becker RM, Sato Y
Radiographics 2019 Nov-Dec;39(7):2085-2102. doi: 10.1148/rg.2019190086. PMID: 31697622
Cranioectodermal dysplasia: a probable ciliopathy.
Konstantinidou AE, Fryssira H, Sifakis S, Karadimas C, Kaminopetros P, Agrogiannis G, Velonis S, Nikkels PG, Patsouris E
Am J Med Genet A 2009 Oct;149A(10):2206-11. doi: 10.1002/ajmg.a.33013. PMID: 19760621
Fetus in fetu--diagnostic criteria and differential diagnosis--a case report and literature review.
Brand A, Alves MC, Saraiva C, Loío P, Goulão J, Malta J, Palminha JM, Martins M
J Pediatr Surg 2004 Apr;39(4):616-8. doi: 10.1016/j.jpedsurg.2003.12.029. PMID: 15065040

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