IFAP syndrome 1, with or without BRESHECK syndrome
- Synonyms
- ICHTHYOSIS FOLLICULARIS, ATRICHIA, AND PHOTOPHOBIA WITH OR WITHOUT BRAIN ANOMALIES, RETARDATION, ECTODERMAL DYSPLASIA, SKELETAL MALFORMATIONS, HIRSCHSPRUNG DISEASE, EAR/EYE ANOMALIES, CLEFT PALATE/CRYPTORCHIDISM, AND KIDNEY DYSPLASIA/HYPOPLASIA; IFAP SYNDROME 1; IFAP syndrome with or without BRESHECK syndrome
- Modes of inheritance
- Autosomal dominant inheritance (Orphanet)
X-linked recessive inheritance (Orphanet)
Not genetically inherited (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (37 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
- Choanal stenosis
Choanal stenosis
- MedGen UID: 108427
- Concept ID: C0584837
- Finding: Finding
Abnormality of head or neck
- Cleft palate
Cleft palate
- MedGen UID: 756015
- Concept ID: C2981150
- Finding: Congenital Abnormality
Abnormality of head or neck
- Sparse scalp hair
Sparse scalp hair
- MedGen UID: 346499
- Concept ID: C1857042
- Finding: Finding
Abnormality of head or neck
- Absent eyebrow
- Abnormality of limbs
- Ectrodactyly
Ectrodactyly
- MedGen UID: 78566
- Concept ID: C0265554
- Finding: Congenital Abnormality
Abnormality of limbs
- Postaxial hand polydactyly
Postaxial hand polydactyly
- MedGen UID: 609221
- Concept ID: C0431904
- Finding: Congenital Abnormality
Abnormality of limbs
- Ectrodactyly
- Abnormality of prenatal development or birth
- Oligohydramnios
Oligohydramnios
- MedGen UID: 86974
- Concept ID: C0079924
- Finding: Pathologic Function
Abnormality of prenatal development or birth
- Oligohydramnios
- Abnormality of the cardiovascular system
- Atrial septal defect
Atrial septal defect
- MedGen UID: 6753
- Concept ID: C0018817
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Hypertensive disorder
Hypertensive disorder
- MedGen UID: 6969
- Concept ID: C0020538
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Atrial septal defect
- Abnormality of the digestive system
- Aganglionic megacolon
Aganglionic megacolon
- MedGen UID: 5559
- Concept ID: C0019569
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Aganglionic megacolon
- Abnormality of the eye
- Corneal neovascularization
Corneal neovascularization
- MedGen UID: 43103
- Concept ID: C0085109
- Finding: Disease or Syndrome
Abnormality of the eye
- Opacification of the corneal stroma
Opacification of the corneal stroma
- MedGen UID: 602191
- Concept ID: C0423250
- Finding: Finding
Abnormality of the eye
- Ptosis
Ptosis
- MedGen UID: 2287
- Concept ID: C0005745
- Finding: Disease or Syndrome
Abnormality of the eye
- Recurrent corneal erosions
Recurrent corneal erosions
- MedGen UID: 56353
- Concept ID: C0155119
- Finding: Disease or Syndrome
Abnormality of the eye
- Corneal neovascularization
- Abnormality of the genitourinary system
- Cryptorchidism
Cryptorchidism
- MedGen UID: 8192
- Concept ID: C0010417
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Hypospadias
Hypospadias
- MedGen UID: 163083
- Concept ID: C0848558
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Multicystic kidney dysplasia
Multicystic kidney dysplasia
- MedGen UID: 811388
- Concept ID: C3714581
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Renal agenesis
Renal agenesis
- MedGen UID: 154237
- Concept ID: C0542519
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Renal dysplasia
Renal dysplasia
- MedGen UID: 760690
- Concept ID: C3536714
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Unilateral renal agenesis
Unilateral renal agenesis
- MedGen UID: 75607
- Concept ID: C0266294
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Cryptorchidism
- Abnormality of the immune system
- Eczematoid dermatitis
Eczematoid dermatitis
- MedGen UID: 3968
- Concept ID: C0013595
- Finding: Disease or Syndrome
Abnormality of the immune system
- Erythroderma
Erythroderma
- MedGen UID: 3767
- Concept ID: C0011606
- Finding: Disease or Syndrome
Abnormality of the immune system
- Keratitis
Keratitis
- MedGen UID: 44013
- Concept ID: C0022568
- Finding: Disease or Syndrome
Abnormality of the immune system
- Recurrent skin infections
Recurrent skin infections
- MedGen UID: 377848
- Concept ID: C1853193
- Finding: Disease or Syndrome
Abnormality of the immune system
- Eczematoid dermatitis
- Abnormality of the integument
- Absent eyelashes
Absent eyelashes
- MedGen UID: 334299
- Concept ID: C1843005
- Finding: Congenital Abnormality
Abnormality of the integument
- Alopecia
Alopecia
- MedGen UID: 7982
- Concept ID: C0002170
- Finding: Finding
Abnormality of the integument
- Atrichia
Atrichia
- MedGen UID: 675288
- Concept ID: C0702167
- 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
- Dystrophic fingernails
Dystrophic fingernails
- MedGen UID: 764340
- Concept ID: C3551426
- Finding: Finding
Abnormality of the integument
- Ectodermal dysplasia
Ectodermal dysplasia
- MedGen UID: 8544
- Concept ID: C0013575
- Finding: Disease or Syndrome
Abnormality of the integument
- Hyperkeratosis
Hyperkeratosis
- MedGen UID: 209030
- Concept ID: C0870082
- Finding: Disease or Syndrome
Abnormality of the integument
- Hypohidrosis
Hypohidrosis
- MedGen UID: 43796
- Concept ID: C0020620
- Finding: Disease or Syndrome
Abnormality of the integument
- Ichthyosis follicularis
Ichthyosis follicularis
- MedGen UID: 1615578
- Concept ID: C4531223
- Finding: Disease or Syndrome
Abnormality of the integument
- Nail dysplasia
Nail dysplasia
- MedGen UID: 331737
- Concept ID: C1834405
- Finding: Congenital Abnormality
Abnormality of the integument
- Nail dystrophy
Nail dystrophy
- MedGen UID: 66368
- Concept ID: C0221260
- Finding: Disease or Syndrome
Abnormality of the integument
- Perianal erythema
Perianal erythema
- MedGen UID: 473350
- Concept ID: C1112161
- Finding: Finding
Abnormality of the integument
- Periungual erythema
Periungual erythema
- MedGen UID: 1720689
- Concept ID: C1963964
- Finding: Sign or Symptom
Abnormality of the integument
- Phrynoderma
Phrynoderma
- MedGen UID: 83101
- Concept ID: C0334013
- Finding: Disease or Syndrome
Abnormality of the integument
- Scaling skin
Scaling skin
- MedGen UID: 472970
- Concept ID: C0237849
- Finding: Finding
Abnormality of the integument
- Subungual hyperkeratosis
Subungual hyperkeratosis
- MedGen UID: 21379
- Concept ID: C0038605
- Finding: Finding
Abnormality of the integument
- Absent eyelashes
- Abnormality of the musculoskeletal system
- Butterfly vertebrae
Butterfly vertebrae
- MedGen UID: 1744309
- Concept ID: C5438458
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Congenital omphalocele
Congenital omphalocele
- MedGen UID: 162756
- Concept ID: C0795690
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Hip dislocation
Hip dislocation
- MedGen UID: 42455
- Concept ID: C0019554
- Finding: Injury or Poisoning
Abnormality of the musculoskeletal system
- Inguinal hernia
Inguinal hernia
- MedGen UID: 6817
- Concept ID: C0019294
- Finding: Finding
Abnormality of the musculoskeletal system
- Microcephaly
Microcephaly
- MedGen UID: 1644158
- Concept ID: C4551563
- Finding: Finding
Abnormality of the musculoskeletal system
- Scoliosis
Scoliosis
- MedGen UID: 11348
- Concept ID: C0036439
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Umbilical hernia
Umbilical hernia
- MedGen UID: 9232
- Concept ID: C0019322
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Unilateral chest hypoplasia
Unilateral chest hypoplasia
- MedGen UID: 335217
- Concept ID: C1845576
- Finding: Finding
Abnormality of the musculoskeletal system
- Butterfly vertebrae
- Abnormality of the nervous system
- Brain atrophy
Brain atrophy
- MedGen UID: 1643639
- Concept ID: C4551584
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Chiari malformation
Chiari malformation
- MedGen UID: 2065
- Concept ID: C0003803
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Hydromyelia
Hydromyelia
- MedGen UID: 450992
- Concept ID: C0152444
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Hypoplasia of the corpus callosum
Hypoplasia of the corpus callosum
- MedGen UID: 138005
- Concept ID: C0344482
- Finding: Congenital Abnormality
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
- Motor delay
Motor delay
- MedGen UID: 381392
- Concept ID: C1854301
- Finding: Finding
Abnormality of the nervous system
- Olivopontocerebellar atrophy
Olivopontocerebellar atrophy
- MedGen UID: 10435
- Concept ID: C0028968
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Photophobia
Photophobia
- MedGen UID: 43220
- Concept ID: C0085636
- Finding: Sign or Symptom
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Ventriculomegaly
Ventriculomegaly
- MedGen UID: 480553
- Concept ID: C3278923
- Finding: Finding
Abnormality of the nervous system
- Brain atrophy
- Abnormality of the respiratory system
- Recurrent upper respiratory tract infections
Recurrent upper respiratory tract infections
- MedGen UID: 154380
- Concept ID: C0581381
- Finding: Disease or Syndrome
Abnormality of the respiratory system
- Recurrent upper respiratory tract infections
- Ear malformation
- Hearing impairment
Hearing impairment
- MedGen UID: 235586
- Concept ID: C1384666
- Finding: Disease or Syndrome
Ear malformation
- Hearing impairment
- Growth abnormality
- Growth delay
Growth delay
- MedGen UID: 99124
- Concept ID: C0456070
- Finding: Pathologic Function
Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Growth delay
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.