Vertebral hypersegmentation and orofacial anomalies
Summary
Available tests
Clinical tests (1 available)
Molecular Genetics Tests
Clinical features
Help- Abnormality of head or neck
- Anteverted nares
Anteverted nares
- MedGen UID: 326648
- Concept ID: C1840077
- Finding: Finding
Abnormality of head or neck
- Epicanthus
Epicanthus
- MedGen UID: 151862
- Concept ID: C0678230
- Finding: Congenital Abnormality
Abnormality of head or neck
- Midface retrusion
Midface retrusion
- MedGen UID: 339938
- Concept ID: C1853242
- Finding: Anatomical Abnormality
Abnormality of head or neck
- Submucous cleft hard palate
Submucous cleft hard palate
- MedGen UID: 98472
- Concept ID: C0432103
- Finding: Congenital Abnormality
Abnormality of head or neck
- Unilateral cleft lip
Unilateral cleft lip
- MedGen UID: 451047
- Concept ID: C0392006
- Finding: Congenital Abnormality
Abnormality of head or neck
- Unilateral cleft palate
Unilateral cleft palate
- MedGen UID: 867754
- Concept ID: C4022143
- Finding: Congenital Abnormality
Abnormality of head or neck
- Widow peak
Widow peak
- MedGen UID: 342891
- Concept ID: C1853486
- Finding: Finding
Abnormality of head or neck
- Anteverted nares
- Abnormality of limbs
- Pes planus
Pes planus
- MedGen UID: 42034
- Concept ID: C0016202
- Finding: Anatomical Abnormality
Abnormality of limbs
- Scapular winging
Scapular winging
- MedGen UID: 66822
- Concept ID: C0240953
- Finding: Anatomical Abnormality
Abnormality of limbs
- Pes planus
- Abnormality of the breast
- Supernumerary nipple
Supernumerary nipple
- MedGen UID: 120564
- Concept ID: C0266011
- Finding: Congenital Abnormality
Abnormality of the breast
- Supernumerary nipple
- Abnormality of the eye
- Blue sclerae
Blue sclerae
- MedGen UID: 154236
- Concept ID: C0542514
- Finding: Finding
Abnormality of the eye
- Blue sclerae
- Abnormality of the musculoskeletal system
- Inguinal hernia
Inguinal hernia
- MedGen UID: 6817
- Concept ID: C0019294
- Finding: Finding
Abnormality of the musculoskeletal system
- Joint hypermobility
Joint hypermobility
- MedGen UID: 336793
- Concept ID: C1844820
- Finding: Finding
Abnormality of the musculoskeletal system
- Micrognathia
Micrognathia
- MedGen UID: 44428
- Concept ID: C0025990
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Pectus excavatum
Pectus excavatum
- MedGen UID: 781174
- Concept ID: C2051831
- Finding: Finding
Abnormality of the musculoskeletal system
- Prominent occiput
Prominent occiput
- MedGen UID: 381255
- Concept ID: C1853737
- Finding: Finding
Abnormality of the musculoskeletal system
- Six lumbar vertebrae
Six lumbar vertebrae
- MedGen UID: 326447
- Concept ID: C1839279
- Finding: Finding
Abnormality of the musculoskeletal system
- Supernumerary ribs
Supernumerary ribs
- MedGen UID: 83380
- Concept ID: C0345397
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Inguinal hernia
- Ear malformation
- Darwin tubercle of helix
Darwin tubercle of helix
- MedGen UID: 866825
- Concept ID: C4021179
- Finding: Anatomical Abnormality
Ear malformation
- Thickened helices
Thickened helices
- MedGen UID: 325240
- Concept ID: C1837732
- Finding: Finding
Ear malformation
- Darwin tubercle of helix
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