Frontonasal dysplasia with alopecia and genital anomaly
- Synonyms
- Frontonasal dysplasia 2
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (39 available)
Clinical features
Help- Abnormality of head or neck
- Anteverted nares
Anteverted nares
- MedGen UID: 326648
- Concept ID: C1840077
- Finding: Finding
Abnormality of head or neck
- Bifid nasal tip
Bifid nasal tip
- MedGen UID: 140870
- Concept ID: C0426428
- Finding: Finding
Abnormality of head or neck
- Blepharophimosis
Blepharophimosis
- MedGen UID: 2670
- Concept ID: C0005744
- Finding: Congenital Abnormality
Abnormality of head or neck
- Broad columella
Broad columella
- MedGen UID: 376932
- Concept ID: C1851059
- Finding: Finding
Abnormality of head or neck
- Broad philtrum
Broad philtrum
- MedGen UID: 344210
- Concept ID: C1854111
- Finding: Finding
Abnormality of head or neck
- Cleft ala nasi
Cleft ala nasi
- MedGen UID: 336715
- Concept ID: C1844537
- Finding: Finding
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
- Depressed nasal ridge
Depressed nasal ridge
- MedGen UID: 334631
- Concept ID: C1842876
- Finding: Finding
Abnormality of head or neck
- Depressed nasal tip
Depressed nasal tip
- MedGen UID: 347214
- Concept ID: C1859717
- Finding: Finding
Abnormality of head or neck
- Prominent forehead
Prominent forehead
- MedGen UID: 373291
- Concept ID: C1837260
- Finding: Finding
Abnormality of head or neck
- Short palpebral fissure
Short palpebral fissure
- MedGen UID: 98067
- Concept ID: C0423112
- Finding: Finding
Abnormality of head or neck
- Sparse eyebrow
Sparse eyebrow
- MedGen UID: 371332
- Concept ID: C1832446
- Finding: Finding
Abnormality of head or neck
- Telecanthus
Telecanthus
- MedGen UID: 140836
- Concept ID: C0423113
- Finding: Finding
Abnormality of head or neck
- Tessier number 13 facial cleft
Tessier number 13 facial cleft
- MedGen UID: 1633782
- Concept ID: C4703426
- Finding: Congenital Abnormality
Abnormality of head or neck
- Upslanted palpebral fissure
Upslanted palpebral fissure
- MedGen UID: 98390
- Concept ID: C0423109
- Finding: Finding
Abnormality of head or neck
- Wide nasal bridge
Wide nasal bridge
- MedGen UID: 341441
- Concept ID: C1849367
- Finding: Finding
Abnormality of head or neck
- Wide nasal ridge
Wide nasal ridge
- MedGen UID: 866473
- Concept ID: C4020718
- Finding: Finding
Abnormality of head or neck
- Widely spaced teeth
Widely spaced teeth
- MedGen UID: 337093
- Concept ID: C1844813
- Finding: Finding
Abnormality of head or neck
- Anteverted nares
- 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 eye
- Decreased lacrimation
Decreased lacrimation
- MedGen UID: 116004
- Concept ID: C0235857
- Finding: Finding
Abnormality of the eye
- Horizontal nystagmus
Horizontal nystagmus
- MedGen UID: 124399
- Concept ID: C0271385
- Finding: Disease or Syndrome
Abnormality of the eye
- Hypertelorism
Hypertelorism
- MedGen UID: 9373
- Concept ID: C0020534
- Finding: Finding
Abnormality of the eye
- Microphthalmia
Microphthalmia
- MedGen UID: 10033
- Concept ID: C0026010
- Finding: Congenital Abnormality
Abnormality of the eye
- Rotary nystagmus
Rotary nystagmus
- MedGen UID: 116106
- Concept ID: C0240595
- Finding: Disease or Syndrome
Abnormality of the eye
- Strabismus
Strabismus
- MedGen UID: 21337
- Concept ID: C0038379
- Finding: Disease or Syndrome
Abnormality of the eye
- Vertical nystagmus
Vertical nystagmus
- MedGen UID: 75749
- Concept ID: C0271386
- Finding: Disease or Syndrome
Abnormality of the eye
- Decreased lacrimation
- Abnormality of the genitourinary system
- Bilateral cryptorchidism
Bilateral cryptorchidism
- MedGen UID: 96568
- Concept ID: C0431663
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Bilateral cryptorchidism
- Abnormality of the integument
- Alopecia totalis
Alopecia totalis
- MedGen UID: 75525
- Concept ID: C0263504
- Finding: Disease or Syndrome
Abnormality of the integument
- Fine hair
Fine hair
- MedGen UID: 98401
- Concept ID: C0423867
- Finding: Finding
Abnormality of the integument
- Hypohidrosis
Hypohidrosis
- MedGen UID: 43796
- Concept ID: C0020620
- Finding: Disease or Syndrome
Abnormality of the integument
- Nevus
Nevus
- MedGen UID: 45074
- Concept ID: C0027960
- Finding: Neoplastic Process
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
- Alopecia totalis
- Abnormality of the musculoskeletal system
- Anterior plagiocephaly
Anterior plagiocephaly
- MedGen UID: 868997
- Concept ID: C4023413
- Finding: Finding
Abnormality of the musculoskeletal system
- Aplasia of the nasal bone
Aplasia of the nasal bone
- MedGen UID: 869213
- Concept ID: C4023635
- Finding: Finding
Abnormality of the musculoskeletal system
- Brachycephaly
Brachycephaly
- MedGen UID: 113165
- Concept ID: C0221356
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Calvarial skull defect
Calvarial skull defect
- MedGen UID: 871299
- Concept ID: C4025787
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Craniosynostosis syndrome
Craniosynostosis syndrome
- MedGen UID: 1163
- Concept ID: C0010278
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Microcephaly
Microcephaly
- MedGen UID: 1644158
- Concept ID: C4551563
- Finding: Finding
Abnormality of the musculoskeletal system
- Parietal foramina
Parietal foramina
- MedGen UID: 526951
- Concept ID: C0222706
- Finding: Body Space or Junction
Abnormality of the musculoskeletal system
- Anterior plagiocephaly
- Abnormality of the nervous system
- Agenesis of cerebellar vermis
Agenesis of cerebellar vermis
- MedGen UID: 1768774
- Concept ID: C5437781
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia
- MedGen UID: 333548
- Concept ID: C1840379
- Finding: Finding
Abnormality of the nervous system
- Encephalocele
Encephalocele
- MedGen UID: 1646412
- Concept ID: C4551722
- 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
- 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
- Agenesis of cerebellar vermis
- Ear malformation
- Low-set ears
Low-set ears
- MedGen UID: 65980
- Concept ID: C0239234
- Finding: Congenital Abnormality
Ear malformation
- Low-set ears
- Growth abnormality
- Fetal growth restriction
Fetal growth restriction
- MedGen UID: 4693
- Concept ID: C0015934
- Finding: Pathologic Function
Growth abnormality
- Fetal growth restriction
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