Orofaciodigital syndrome I
- Synonyms
- OFD syndrome 1; OFDS 1; OFDS I; Oral-Facial-Digital Syndrome Type I; Oral-facial-digital syndrome type 1; Orofaciodigital syndrome 1; Papillon-Leage and Psaume Syndrome; Papillon-League-Psaume syndrome (formerly)
- Modes of inheritance
- X-linked dominant inheritance (Orphanet)
Not genetically inherited (Orphanet)
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Brunella Franco
- Ange-Line Bruel
- Christel Thauvin-Robinet
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (111 available)
Clinical features
Help- Abnormality of head or neck
- Agenesis of permanent teeth
Agenesis of permanent teeth
- MedGen UID: 224851
- Concept ID: C1290511
- Finding: Congenital Abnormality
Abnormality of head or neck
- Alveolar ridge overgrowth
Alveolar ridge overgrowth
- MedGen UID: 400802
- Concept ID: C1865598
- Finding: Finding
Abnormality of head or neck
- Ankyloglossia
Ankyloglossia
- MedGen UID: 56288
- Concept ID: C0152415
- Finding: Congenital Abnormality
Abnormality of head or neck
- Bifid tongue
Bifid tongue
- MedGen UID: 82731
- Concept ID: C0266111
- Finding: Congenital Abnormality
Abnormality of head or neck
- Carious teeth
Carious teeth
- MedGen UID: 8288
- Concept ID: C0011334
- Finding: Disease or Syndrome
Abnormality of head or neck
- Cleft palate
Cleft palate
- MedGen UID: 756015
- Concept ID: C2981150
- Finding: Congenital Abnormality
Abnormality of head or neck
- Cleft upper lip
Cleft upper lip
- MedGen UID: 40327
- Concept ID: C0008924
- Finding: Congenital Abnormality
Abnormality of head or neck
- Downslanted palpebral fissures
Downslanted palpebral fissures
- MedGen UID: 98391
- Concept ID: C0423110
- Finding: Finding
Abnormality of head or neck
- Enamel hypoplasia
Enamel hypoplasia
- MedGen UID: 3730
- Concept ID: C0011351
- Finding: Disease or Syndrome
Abnormality of head or neck
- Epicanthus
Epicanthus
- MedGen UID: 151862
- Concept ID: C0678230
- Finding: Congenital Abnormality
Abnormality of head or neck
- Facial asymmetry
Facial asymmetry
- MedGen UID: 266298
- Concept ID: C1306710
- Finding: Finding
Abnormality of head or neck
- High palate
High palate
- MedGen UID: 66814
- Concept ID: C0240635
- 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
- Median cleft upper lip
Median cleft upper lip
- MedGen UID: 342454
- Concept ID: C1850256
- Finding: Congenital Abnormality
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
- Tongue nodules
Tongue nodules
- MedGen UID: 116122
- Concept ID: C0241438
- Finding: Finding
Abnormality of head or neck
- Underdeveloped nasal alae
Underdeveloped nasal alae
- MedGen UID: 322332
- Concept ID: C1834055
- Finding: Congenital Abnormality
Abnormality of head or neck
- Wide nasal bridge
Wide nasal bridge
- MedGen UID: 341441
- Concept ID: C1849367
- Finding: Finding
Abnormality of head or neck
- Agenesis of permanent teeth
- Abnormality of limbs
- Brachydactyly
Brachydactyly
- MedGen UID: 67454
- Concept ID: C0221357
- Finding: Congenital Abnormality
Abnormality of limbs
- Clinodactyly
Clinodactyly
- MedGen UID: 1644094
- Concept ID: C4551485
- Finding: Congenital Abnormality
Abnormality of limbs
- Polydactyly
Polydactyly
- MedGen UID: 57774
- Concept ID: C0152427
- Finding: Congenital Abnormality
Abnormality of limbs
- Radial deviation of finger
Radial deviation of finger
- MedGen UID: 322852
- Concept ID: C1836189
- Finding: Finding
Abnormality of limbs
- Short 2nd toe
Short 2nd toe
- MedGen UID: 867399
- Concept ID: C4021769
- Finding: Anatomical Abnormality
Abnormality of limbs
- Syndactyly
Syndactyly
- MedGen UID: 52619
- Concept ID: C0039075
- Finding: Congenital Abnormality
Abnormality of limbs
- Brachydactyly
- Abnormality of the cardiovascular system
- Abnormal heart morphology
Abnormal heart morphology
- MedGen UID: 6748
- Concept ID: C0018798
- 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
- Vascular dilatation
Vascular dilatation
- MedGen UID: 8076
- Concept ID: C0002940
- Finding: Pathologic Function
Abnormality of the cardiovascular system
- Abnormal heart morphology
- Abnormality of the digestive system
- Hamartoma of tongue
Hamartoma of tongue
- MedGen UID: 98465
- Concept ID: C0431565
- Finding: Finding
Abnormality of the digestive system
- Hepatic cysts
Hepatic cysts
- MedGen UID: 82761
- Concept ID: C0267834
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Hepatic fibrosis
Hepatic fibrosis
- MedGen UID: 116093
- Concept ID: C0239946
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Pancreatic cysts
Pancreatic cysts
- MedGen UID: 45293
- Concept ID: C0030283
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Hamartoma of tongue
- Abnormality of the eye
- Hypertelorism
Hypertelorism
- MedGen UID: 9373
- Concept ID: C0020534
- Finding: Finding
Abnormality of the eye
- Hypertelorism
- Abnormality of the genitourinary system
- Ovarian cyst
Ovarian cyst
- MedGen UID: 14540
- Concept ID: C0029927
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Polycystic kidney disease
Polycystic kidney disease
- MedGen UID: 9639
- Concept ID: C0022680
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Proteinuria
Proteinuria
- MedGen UID: 10976
- Concept ID: C0033687
- Finding: Finding
Abnormality of the genitourinary system
- Ovarian cyst
- Abnormality of the integument
- Alopecia
Alopecia
- MedGen UID: 7982
- Concept ID: C0002170
- Finding: Finding
Abnormality of the integument
- Dry hair
Dry hair
- MedGen UID: 75809
- Concept ID: C0277960
- Finding: Finding
Abnormality of the integument
- Milia
Milia
- MedGen UID: 87528
- Concept ID: C0345996
- Finding: Anatomical Abnormality
Abnormality of the integument
- Sparse hair
Sparse hair
- MedGen UID: 1790211
- Concept ID: C5551005
- Finding: Finding
Abnormality of the integument
- Alopecia
- Abnormality of the musculoskeletal system
- Dolichocephaly
Dolichocephaly
- MedGen UID: 65142
- Concept ID: C0221358
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Frontal bossing
Frontal bossing
- MedGen UID: 67453
- Concept ID: C0221354
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Microcephaly
Microcephaly
- MedGen UID: 1644158
- Concept ID: C4551563
- Finding: Finding
Abnormality of the musculoskeletal system
- Microretrognathia
Microretrognathia
- MedGen UID: 326907
- Concept ID: C1839546
- Finding: Finding
Abnormality of the musculoskeletal system
- Dolichocephaly
- Abnormality of the nervous system
- Abnormal cortical gyration
Abnormal cortical gyration
- MedGen UID: 343457
- Concept ID: C1856019
- Finding: Anatomical Abnormality
Abnormality of the nervous system
- Arachnoid cyst
Arachnoid cyst
- MedGen UID: 86860
- Concept ID: C0078981
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Cerebellar cyst
Cerebellar cyst
- MedGen UID: 339835
- Concept ID: C1847762
- Finding: Finding
Abnormality of the nervous system
- Cerebral atrophy
Cerebral atrophy
- MedGen UID: 116012
- Concept ID: C0235946
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Corpus callosum, agenesis of
Corpus callosum, agenesis of
- MedGen UID: 104498
- Concept ID: C0175754
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Gray matter heterotopia
Gray matter heterotopia
- MedGen UID: 452349
- Concept ID: C0266491
- Finding: Finding
Abnormality of the nervous system
- Hamartoma of hypothalamus
Hamartoma of hypothalamus
- MedGen UID: 137970
- Concept ID: C0342418
- Finding: Finding
Abnormality of the nervous system
- Hydrocephalus
Hydrocephalus
- MedGen UID: 9335
- Concept ID: C0020255
- Finding: Disease or Syndrome
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
- Myelomeningocele
Myelomeningocele
- MedGen UID: 7538
- Concept ID: C0025312
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Porencephalic cyst
Porencephalic cyst
- MedGen UID: 906044
- Concept ID: C4082172
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Abnormal cortical gyration
- Ear malformation
- Hearing impairment
Hearing impairment
- MedGen UID: 235586
- Concept ID: C1384666
- Finding: Disease or Syndrome
Ear malformation
- Low-set ears
Low-set ears
- MedGen UID: 65980
- Concept ID: C0239234
- Finding: Congenital Abnormality
Ear malformation
- Hearing impairment
- Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Short stature
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