Orofacial-digital syndrome III
- Synonyms
- OFD syndrome 3; OFDS 3; OFDS III; ORAL-FACIAL-DIGITAL SYNDROME, TYPE III; Oral-facial-digital syndrome type 3; Orofaciodigital syndrome 3; Orofaciodigital syndrome III; Sugarman syndrome
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
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
- Bifid uvula
Bifid uvula
- MedGen UID: 1646931
- Concept ID: C4551488
- Finding: Congenital Abnormality
Abnormality of head or neck
- Bulbous nose
Bulbous nose
- MedGen UID: 66013
- Concept ID: C0240543
- Finding: Finding
Abnormality of head or neck
- Microdontia
Microdontia
- MedGen UID: 66008
- Concept ID: C0240340
- 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
- Tongue nodules
Tongue nodules
- MedGen UID: 116122
- Concept ID: C0241438
- Finding: Finding
Abnormality of head or neck
- Bifid tongue
- Abnormality of limbs
- Postaxial foot polydactyly
Postaxial foot polydactyly
- MedGen UID: 384489
- Concept ID: C2112129
- Finding: Finding
Abnormality of limbs
- Postaxial hand polydactyly
Postaxial hand polydactyly
- MedGen UID: 609221
- Concept ID: C0431904
- Finding: Congenital Abnormality
Abnormality of limbs
- Postaxial foot polydactyly
- Abnormality of the eye
- Hypertelorism
Hypertelorism
- MedGen UID: 9373
- Concept ID: C0020534
- Finding: Finding
Abnormality of the eye
- Hypertelorism
- Abnormality of the integument
- Hyperconvex nail
Hyperconvex nail
- MedGen UID: 488894
- Concept ID: C0423807
- Finding: Finding
Abnormality of the integument
- Hyperconvex nail
- Abnormality of the musculoskeletal system
- Kyphosis
Kyphosis
- MedGen UID: 44042
- Concept ID: C0022821
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Pectus excavatum
Pectus excavatum
- MedGen UID: 781174
- Concept ID: C2051831
- Finding: Finding
Abnormality of the musculoskeletal system
- Short sternum
Short sternum
- MedGen UID: 108394
- Concept ID: C0575497
- Finding: Finding
Abnormality of the musculoskeletal system
- Kyphosis
- 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
- Myoclonus
Myoclonus
- MedGen UID: 10234
- Concept ID: C0027066
- Finding: Finding
Abnormality of the nervous system
- Intellectual disability
- Ear malformation
- Low-set ears
Low-set ears
- MedGen UID: 65980
- Concept ID: C0239234
- Finding: Congenital Abnormality
Ear malformation
- Low-set ears
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