Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome
- Synonyms
- Frontonasal dysplasia 3
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (27 available)
Clinical features
Help- Abnormality of head or neck
- Absent eyebrow
Absent eyebrow
- MedGen UID: 98133
- Concept ID: C0431448
- Finding: Congenital Abnormality
Abnormality of head or neck
- Cleft palate
Cleft palate
- MedGen UID: 756015
- Concept ID: C2981150
- Finding: Congenital Abnormality
Abnormality of head or neck
- Prominent glabella
Prominent glabella
- MedGen UID: 349761
- Concept ID: C1860247
- Finding: Finding
Abnormality of head or neck
- Tessier cleft
Tessier cleft
- MedGen UID: 146898
- Concept ID: C0685787
- Finding: Congenital Abnormality
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
- Upper eyelid coloboma
Upper eyelid coloboma
- MedGen UID: 350283
- Concept ID: C1863872
- Finding: Disease or Syndrome
Abnormality of head or neck
- Wide nasal bridge
Wide nasal bridge
- MedGen UID: 341441
- Concept ID: C1849367
- Finding: Finding
Abnormality of head or neck
- Absent eyebrow
- 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
- Hypertelorism
- Abnormality of the integument
- Sparse eyelashes
Sparse eyelashes
- MedGen UID: 375151
- Concept ID: C1843300
- Finding: Finding
Abnormality of the integument
- Sparse eyelashes
- Abnormality of the musculoskeletal system
- Brachycephaly
Brachycephaly
- MedGen UID: 113165
- Concept ID: C0221356
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Brachycephaly
- 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
- Intellectual disability
- 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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