Orofaciodigital syndrome 17
- Synonyms
- OFDS XVII; ORAL-FACIAL-DIGITAL SYNDROME, TYPE XVII; OROFACIODIGITAL SYNDROME XVII
Available tests
Clinical tests (5 available)
Clinical features
Help- Abnormality of head or neck
- High, narrow palate
High, narrow palate
- MedGen UID: 324787
- Concept ID: C1837404
- Finding: Finding
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
- Prominent nose
Prominent nose
- MedGen UID: 98423
- Concept ID: C0426415
- Finding: Finding
Abnormality of head or neck
- Short neck
Short neck
- MedGen UID: 99267
- Concept ID: C0521525
- Finding: Finding
Abnormality of head or neck
- High, narrow palate
- Abnormality of limbs
- Central Y-shaped metacarpal
Central Y-shaped metacarpal
- MedGen UID: 338504
- Concept ID: C1848597
- Finding: Finding
Abnormality of limbs
- Clinodactyly
Clinodactyly
- MedGen UID: 1644094
- Concept ID: C4551485
- Finding: Congenital Abnormality
Abnormality of limbs
- Clubbing of fingers
Clubbing of fingers
- MedGen UID: 3129
- Concept ID: C0009080
- Finding: Finding
Abnormality of limbs
- Partial duplication of thumb phalanx
Partial duplication of thumb phalanx
- MedGen UID: 909031
- Concept ID: C4082168
- Finding: Anatomical Abnormality
Abnormality of limbs
- Polydactyly
Polydactyly
- MedGen UID: 57774
- Concept ID: C0152427
- Finding: Congenital Abnormality
Abnormality of limbs
- Short middle phalanx of the 2nd finger
Short middle phalanx of the 2nd finger
- MedGen UID: 867077
- Concept ID: C4021435
- Finding: Anatomical Abnormality
Abnormality of limbs
- Central Y-shaped metacarpal
- Abnormality of the breast
- Inversion of nipple
Inversion of nipple
- MedGen UID: 82844
- Concept ID: C0269269
- Finding: Anatomical Abnormality
Abnormality of the breast
- Inversion of nipple
- Abnormality of the cardiovascular system
- Tetralogy of Fallot
Tetralogy of Fallot
- MedGen UID: 21498
- Concept ID: C0039685
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Tetralogy of Fallot
- Abnormality of the genitourinary system
- Micropenis
Micropenis
- MedGen UID: 1633603
- Concept ID: C4551492
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Renal hypoplasia
Renal hypoplasia
- MedGen UID: 120571
- Concept ID: C0266295
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Micropenis
- Abnormality of the musculoskeletal system
- Prominent metopic ridge
Prominent metopic ridge
- MedGen UID: 387953
- Concept ID: C1857949
- Finding: Finding
Abnormality of the musculoskeletal system
- Retrognathia
Retrognathia
- MedGen UID: 19766
- Concept ID: C0035353
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Prominent metopic ridge
- Abnormality of the nervous system
- CNS hypomyelination
CNS hypomyelination
- MedGen UID: 892446
- Concept ID: C4025616
- Finding: Finding
Abnormality of the nervous system
- Delayed speech and language development
Delayed speech and language development
- MedGen UID: 105318
- Concept ID: C0454644
- Finding: Finding
Abnormality of the nervous system
- Ventriculomegaly
Ventriculomegaly
- MedGen UID: 480553
- Concept ID: C3278923
- Finding: Finding
Abnormality of the nervous system
- CNS hypomyelination
- 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
- Decreased body weight
Decreased body weight
- MedGen UID: 1806755
- Concept ID: C5574742
- Finding: Finding
Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Decreased body weight
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.