Trichothiodystrophy 1, photosensitive
- Synonyms
- PIBIDS syndrome; TAY SYNDROME; TRICHOTHIODYSTROPHY WITH CONGENITAL ICHTHYOSIS
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical features
Help- Abnormality of head or neck
- Short nose
Short nose
- MedGen UID: 343052
- Concept ID: C1854114
- Finding: Finding
Abnormality of head or neck
- Triangular mouth
Triangular mouth
- MedGen UID: 336578
- Concept ID: C1849341
- Finding: Finding
Abnormality of head or neck
- Short nose
- Abnormality of the digestive system
- Chronic diarrhea
Chronic diarrhea
- MedGen UID: 96036
- Concept ID: C0401151
- Finding: Finding
Abnormality of the digestive system
- Intestinal obstruction
Intestinal obstruction
- MedGen UID: 43933
- Concept ID: C0021843
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Malabsorption
Malabsorption
- MedGen UID: 811453
- Concept ID: C3714745
- Finding: Finding
Abnormality of the digestive system
- Chronic diarrhea
- Abnormality of the endocrine system
- Hypogonadism
Hypogonadism
- MedGen UID: 5711
- Concept ID: C0020619
- Finding: Disease or Syndrome
Abnormality of the endocrine system
- Hypogonadism
- Abnormality of the eye
- Cataract
Cataract
- MedGen UID: 39462
- Concept ID: C0086543
- Finding: Disease or Syndrome
Abnormality of the eye
- Microcornea
Microcornea
- MedGen UID: 78610
- Concept ID: C0266544
- Finding: Congenital Abnormality
Abnormality of the eye
- Microphthalmia
Microphthalmia
- MedGen UID: 10033
- Concept ID: C0026010
- Finding: Congenital Abnormality
Abnormality of the eye
- Nystagmus
Nystagmus
- MedGen UID: 45166
- Concept ID: C0028738
- Finding: Disease or Syndrome
Abnormality of the eye
- Strabismus
Strabismus
- MedGen UID: 21337
- Concept ID: C0038379
- Finding: Disease or Syndrome
Abnormality of the eye
- Cataract
- Abnormality of the immune system
- Asthma
Asthma
- MedGen UID: 2109
- Concept ID: C0004096
- Finding: Disease or Syndrome
Abnormality of the immune system
- Decreased circulating IgG level
Decreased circulating IgG level
- MedGen UID: 1720114
- Concept ID: C5234937
- Finding: Finding
Abnormality of the immune system
- Erythroderma
Erythroderma
- MedGen UID: 3767
- Concept ID: C0011606
- Finding: Disease or Syndrome
Abnormality of the immune system
- Keratoconjunctivitis sicca
Keratoconjunctivitis sicca
- MedGen UID: 9620
- Concept ID: C0022575
- Finding: Disease or Syndrome
Abnormality of the immune system
- Recurrent infections
Recurrent infections
- MedGen UID: 65998
- Concept ID: C0239998
- Finding: Finding
Abnormality of the immune system
- Asthma
- Abnormality of the integument
- Brittle hair
Brittle hair
- MedGen UID: 120480
- Concept ID: C0263490
- Finding: Disease or Syndrome
Abnormality of the integument
- Congenital nonbullous ichthyosiform erythroderma
Congenital nonbullous ichthyosiform erythroderma
- MedGen UID: 38180
- Concept ID: C0079154
- Finding: Disease or Syndrome
Abnormality of the integument
- Cutaneous photosensitivity
Cutaneous photosensitivity
- MedGen UID: 87601
- Concept ID: C0349506
- Finding: Pathologic Function
Abnormality of the integument
- Dry skin
Dry skin
- MedGen UID: 56250
- Concept ID: C0151908
- Finding: Sign or Symptom
Abnormality of the integument
- Fine hair
Fine hair
- MedGen UID: 98401
- Concept ID: C0423867
- Finding: Finding
Abnormality of the integument
- Fragile nails
Fragile nails
- MedGen UID: 341661
- Concept ID: C1856963
- Finding: Finding
Abnormality of the integument
- Freckling
Freckling
- MedGen UID: 5272
- Concept ID: C0016689
- Finding: Finding
Abnormality of the integument
- Hyperkeratosis
Hyperkeratosis
- MedGen UID: 209030
- Concept ID: C0870082
- Finding: Disease or Syndrome
Abnormality of the integument
- Nail dystrophy
Nail dystrophy
- MedGen UID: 66368
- Concept ID: C0221260
- Finding: Disease or Syndrome
Abnormality of the integument
- Pili torti
Pili torti
- MedGen UID: 82670
- Concept ID: C0263491
- Finding: Finding
Abnormality of the integument
- Small nail
Small nail
- MedGen UID: 537942
- Concept ID: C0263523
- Finding: Finding
Abnormality of the integument
- Sparse hair
Sparse hair
- MedGen UID: 1790211
- Concept ID: C5551005
- Finding: Finding
Abnormality of the integument
- Telangiectasia
Telangiectasia
- MedGen UID: 21088
- Concept ID: C0039446
- Finding: Finding
Abnormality of the integument
- Tiger tail banding
Tiger tail banding
- MedGen UID: 892884
- Concept ID: C4073178
- Finding: Finding
Abnormality of the integument
- Trichorrhexis nodosa
Trichorrhexis nodosa
- MedGen UID: 82668
- Concept ID: C0263485
- Finding: Disease or Syndrome
Abnormality of the integument
- Trichoschisis
Trichoschisis
- MedGen UID: 698036
- Concept ID: C1274711
- Finding: Disease or Syndrome
Abnormality of the integument
- Brittle hair
- Abnormality of the musculoskeletal system
- Absence of subcutaneous fat
Absence of subcutaneous fat
- MedGen UID: 69138
- Concept ID: C0241267
- Finding: Finding
Abnormality of the musculoskeletal system
- Flexion contracture
Flexion contracture
- MedGen UID: 83069
- Concept ID: C0333068
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Microcephaly
Microcephaly
- MedGen UID: 1644158
- Concept ID: C4551563
- Finding: Finding
Abnormality of the musculoskeletal system
- Retrognathia
Retrognathia
- MedGen UID: 19766
- Concept ID: C0035353
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Absence of subcutaneous fat
- Abnormality of the nervous system
- Delayed speech and language development
Delayed speech and language development
- MedGen UID: 105318
- Concept ID: C0454644
- Finding: Finding
Abnormality of the nervous system
- Intellectual disability
Intellectual disability
- MedGen UID: 811461
- Concept ID: C3714756
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Photophobia
Photophobia
- MedGen UID: 43220
- Concept ID: C0085636
- Finding: Sign or Symptom
Abnormality of the nervous system
- Delayed speech and language development
- Ear malformation
- Macrotia
Macrotia
- MedGen UID: 488785
- Concept ID: C0152421
- Finding: Congenital Abnormality
Ear malformation
- Protruding ear
Protruding ear
- MedGen UID: 343309
- Concept ID: C1855285
- Finding: Finding
Ear malformation
- Macrotia
- Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Small for gestational age
Small for gestational age
- MedGen UID: 65920
- Concept ID: C0235991
- Finding: Finding
Growth abnormality
- Short stature
- Neoplasm
- Skin basal cell carcinoma
Skin basal cell carcinoma
- MedGen UID: 1648304
- Concept ID: C4721806
- Finding: Neoplastic Process
Neoplasm
- Squamous cell carcinoma
Squamous cell carcinoma
- MedGen UID: 2874
- Concept ID: C0007137
- Finding: Neoplastic Process
Neoplasm
- Skin basal cell carcinoma
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