Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- GeneReview Scope
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- J Timothy Wright
- Dorothy K Grange
- Mary Fete
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (22 available)
Clinical features
Help- Abnormality of head or neck
- Absent eyebrow
Absent eyebrow
- MedGen UID: 98133
- Concept ID: C0431448
- Finding: Congenital Abnormality
Abnormality of head or neck
- Conical tooth
Conical tooth
- MedGen UID: 82730
- Concept ID: C0266037
- Finding: Congenital Abnormality
Abnormality of head or neck
- Depressed nasal bridge
Depressed nasal bridge
- MedGen UID: 373112
- Concept ID: C1836542
- Finding: Finding
Abnormality of head or neck
- Everted lower lip vermilion
Everted lower lip vermilion
- MedGen UID: 344003
- Concept ID: C1853246
- Finding: Finding
Abnormality of head or neck
- Partial congenital absence of teeth
Partial congenital absence of teeth
- MedGen UID: 43794
- Concept ID: C0020608
- Finding: Congenital Abnormality
Abnormality of head or neck
- Rhinitis
Rhinitis
- MedGen UID: 19782
- Concept ID: C0035455
- Finding: Disease or Syndrome
Abnormality of head or neck
- Sparse lateral eyebrow
Sparse lateral eyebrow
- MedGen UID: 387768
- Concept ID: C1857206
- Finding: Finding
Abnormality of head or neck
- Sparse scalp hair
Sparse scalp hair
- MedGen UID: 346499
- Concept ID: C1857042
- Finding: Finding
Abnormality of head or neck
- Xerostomia
Xerostomia
- MedGen UID: 22735
- Concept ID: C0043352
- Finding: Disease or Syndrome
Abnormality of head or neck
- Absent eyebrow
- Abnormality of the breast
- Absent nipple
Absent nipple
- MedGen UID: 64223
- Concept ID: C0175755
- Finding: Congenital Abnormality
Abnormality of the breast
- Hypoplastic nipples
Hypoplastic nipples
- MedGen UID: 98156
- Concept ID: C0432355
- Finding: Congenital Abnormality
Abnormality of the breast
- Absent nipple
- Abnormality of the integument
- Absent eyelashes
Absent eyelashes
- MedGen UID: 334299
- Concept ID: C1843005
- Finding: Congenital Abnormality
Abnormality of the integument
- Anhidrosis
Anhidrosis
- MedGen UID: 1550
- Concept ID: C0003028
- Finding: Disease or Syndrome
Abnormality of the integument
- Dry skin
Dry skin
- MedGen UID: 56250
- Concept ID: C0151908
- Finding: Sign or Symptom
Abnormality of the integument
- Ectodermal dysplasia
Ectodermal dysplasia
- MedGen UID: 8544
- Concept ID: C0013575
- Finding: Disease or Syndrome
Abnormality of the integument
- Periorbital wrinkles
Periorbital wrinkles
- MedGen UID: 334988
- Concept ID: C1844605
- Finding: Finding
Abnormality of the integument
- Sparse body hair
Sparse body hair
- MedGen UID: 350775
- Concept ID: C1862863
- Finding: Finding
Abnormality of the integument
- Sparse eyelashes
Sparse eyelashes
- MedGen UID: 375151
- Concept ID: C1843300
- Finding: Finding
Abnormality of the integument
- Sparse hair
Sparse hair
- MedGen UID: 1790211
- Concept ID: C5551005
- Finding: Finding
Abnormality of the integument
- Absent eyelashes
- Abnormality of the respiratory system
- Recurrent respiratory infections
Recurrent respiratory infections
- MedGen UID: 812812
- Concept ID: C3806482
- Finding: Finding
Abnormality of the respiratory system
- Recurrent respiratory infections
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