Orofaciodigital syndrome type 14
- Synonyms
- Orofaciodigital syndrome xiv
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (26 available)
Clinical features
Help- Abnormality of head or neck
- Bifid tongue
Bifid tongue
- MedGen UID: 82731
- Concept ID: C0266111
- Finding: Congenital Abnormality
Abnormality of head or neck
- Cleft lip
Cleft lip
- MedGen UID: 1370297
- Concept ID: C4321245
- Finding: Anatomical Abnormality
Abnormality of head or neck
- Cleft palate
Cleft palate
- MedGen UID: 756015
- Concept ID: C2981150
- Finding: Congenital Abnormality
Abnormality of head or neck
- Lobulated tongue
Lobulated tongue
- MedGen UID: 140914
- Concept ID: C0431564
- Finding: Congenital Abnormality
Abnormality of head or neck
- Natal tooth
Natal tooth
- MedGen UID: 10268
- Concept ID: C0027443
- Finding: Finding
Abnormality of head or neck
- Teeth, supernumerary
Teeth, supernumerary
- MedGen UID: 21210
- Concept ID: C0040457
- Finding: Anatomical Abnormality
Abnormality of head or neck
- Telecanthus
Telecanthus
- MedGen UID: 140836
- Concept ID: C0423113
- Finding: Finding
Abnormality of head or neck
- Upslanted palpebral fissure
Upslanted palpebral fissure
- MedGen UID: 98390
- Concept ID: C0423109
- Finding: Finding
Abnormality of head or neck
- Bifid tongue
- Abnormality of limbs
- Broad hallux
Broad hallux
- MedGen UID: 401165
- Concept ID: C1867131
- Finding: Finding
Abnormality of limbs
- Postaxial hand polydactyly
Postaxial hand polydactyly
- MedGen UID: 609221
- Concept ID: C0431904
- Finding: Congenital Abnormality
Abnormality of limbs
- Preaxial polydactyly
Preaxial polydactyly
- MedGen UID: 87498
- Concept ID: C0345354
- Finding: Congenital Abnormality
Abnormality of limbs
- Broad hallux
- 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
- Patent ductus arteriosus
Patent ductus arteriosus
- MedGen UID: 4415
- Concept ID: C0013274
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Ventricular septal defect
Ventricular septal defect
- MedGen UID: 42366
- Concept ID: C0018818
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Atrial septal defect
- Abnormality of the digestive system
- Anteriorly placed anus
Anteriorly placed anus
- MedGen UID: 333160
- Concept ID: C1838705
- Finding: Finding
Abnormality of the digestive system
- Hamartoma of tongue
Hamartoma of tongue
- MedGen UID: 98465
- Concept ID: C0431565
- Finding: Finding
Abnormality of the digestive system
- Anteriorly placed anus
- Abnormality of the eye
- Coloboma of optic nerve
Coloboma of optic nerve
- MedGen UID: 57832
- Concept ID: C0155299
- Finding: Disease or Syndrome
Abnormality of the eye
- Retinal coloboma
Retinal coloboma
- MedGen UID: 761889
- Concept ID: C3540764
- Finding: Disease or Syndrome
Abnormality of the eye
- Retinitis
Retinitis
- MedGen UID: 19765
- Concept ID: C0035333
- Finding: Disease or Syndrome
Abnormality of the eye
- Coloboma of optic nerve
- Abnormality of the genitourinary system
- Cryptorchidism
Cryptorchidism
- MedGen UID: 8192
- Concept ID: C0010417
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Epispadias
Epispadias
- MedGen UID: 41839
- Concept ID: C0014588
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Micropenis
Micropenis
- MedGen UID: 1633603
- Concept ID: C4551492
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Unilateral renal hypoplasia
Unilateral renal hypoplasia
- MedGen UID: 609098
- Concept ID: C0431691
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Cryptorchidism
- Abnormality of the musculoskeletal system
- Dandy-Walker syndrome
Dandy-Walker syndrome
- MedGen UID: 4150
- Concept ID: C0010964
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Generalized hypotonia
Generalized hypotonia
- MedGen UID: 346841
- Concept ID: C1858120
- Finding: Finding
Abnormality of the musculoskeletal system
- Microcephaly
Microcephaly
- MedGen UID: 1644158
- Concept ID: C4551563
- Finding: Finding
Abnormality of the musculoskeletal system
- Micrognathia
Micrognathia
- MedGen UID: 44428
- Concept ID: C0025990
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Microretrognathia
Microretrognathia
- MedGen UID: 326907
- Concept ID: C1839546
- Finding: Finding
Abnormality of the musculoskeletal system
- Short ribs
Short ribs
- MedGen UID: 98094
- Concept ID: C0426817
- Finding: Finding
Abnormality of the musculoskeletal system
- Trigonocephaly
Trigonocephaly
- MedGen UID: 82713
- Concept ID: C0265535
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Dandy-Walker syndrome
- Abnormality of the nervous system
- Absent speech
Absent speech
- MedGen UID: 340737
- Concept ID: C1854882
- Finding: Finding
Abnormality of the nervous system
- CNS hypomyelination
CNS hypomyelination
- MedGen UID: 892446
- Concept ID: C4025616
- Finding: Finding
Abnormality of the nervous system
- Cerebellar hypoplasia
Cerebellar hypoplasia
- MedGen UID: 120578
- Concept ID: C0266470
- 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
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Holoprosencephaly sequence
Holoprosencephaly sequence
- MedGen UID: 38214
- Concept ID: C0079541
- 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, severe
Intellectual disability, severe
- MedGen UID: 48638
- Concept ID: C0036857
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Molar tooth sign on MRI
Molar tooth sign on MRI
- MedGen UID: 400670
- Concept ID: C1865060
- Finding: Finding
Abnormality of the nervous system
- Occipital encephalocele
Occipital encephalocele
- MedGen UID: 4935
- Concept ID: C0014067
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Partial agenesis of the corpus callosum
Partial agenesis of the corpus callosum
- MedGen UID: 98127
- Concept ID: C0431368
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Periventricular heterotopia
Periventricular heterotopia
- MedGen UID: 1766888
- Concept ID: C5399973
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Polymicrogyria
Polymicrogyria
- MedGen UID: 78605
- Concept ID: C0266464
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Simplified gyral pattern
Simplified gyral pattern
- MedGen UID: 413664
- Concept ID: C2749675
- Finding: Finding
Abnormality of the nervous system
- Absent speech
- Abnormality of the respiratory system
- Aplasia of the epiglottis
Aplasia of the epiglottis
- MedGen UID: 870194
- Concept ID: C4024628
- Finding: Finding
Abnormality of the respiratory system
- Aplasia of the epiglottis
- Ear malformation
- Low-set ears
Low-set ears
- MedGen UID: 65980
- Concept ID: C0239234
- Finding: Congenital Abnormality
Ear malformation
- Posteriorly rotated ears
Posteriorly rotated ears
- MedGen UID: 96566
- Concept ID: C0431478
- Finding: Congenital Abnormality
Ear malformation
- Low-set ears
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