Meier-Gorlin syndrome 7
Summary
Available tests
Clinical features
Help- Abnormality of head or neck
- Choanal atresia
Choanal atresia
- MedGen UID: 3395
- Concept ID: C0008297
- 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
- High palate
High palate
- MedGen UID: 66814
- Concept ID: C0240635
- Finding: Congenital Abnormality
Abnormality of head or neck
- Narrow mouth
Narrow mouth
- MedGen UID: 44435
- Concept ID: C0026034
- Finding: Congenital Abnormality
Abnormality of head or neck
- Thin eyebrow
Thin eyebrow
- MedGen UID: 924116
- Concept ID: C4281771
- Finding: Finding
Abnormality of head or neck
- Choanal atresia
- Abnormality of limbs
- 2-3 toe syndactyly
2-3 toe syndactyly
- MedGen UID: 1645640
- Concept ID: C4551570
- Finding: Congenital Abnormality
Abnormality of limbs
- 2-4 finger cutaneous syndactyly
2-4 finger cutaneous syndactyly
- MedGen UID: 866881
- Concept ID: C4021236
- Finding: Anatomical Abnormality
Abnormality of limbs
- Clubbing
Clubbing
- MedGen UID: 57692
- Concept ID: C0149651
- Finding: Anatomical Abnormality
Abnormality of limbs
- Dislocated radial head
Dislocated radial head
- MedGen UID: 488814
- Concept ID: C0265563
- Finding: Congenital Abnormality
Abnormality of limbs
- Patella aplasia/hypoplasia
Patella aplasia/hypoplasia
- MedGen UID: 358246
- Concept ID: C1868577
- Finding: Finding
Abnormality of limbs
- Polydactyly of a biphalangeal thumb
Polydactyly of a biphalangeal thumb
- MedGen UID: 237235
- Concept ID: C1395852
- Finding: Congenital Abnormality
Abnormality of limbs
- 2-3 toe syndactyly
- Abnormality of the breast
- Breast aplasia
Breast aplasia
- MedGen UID: 539633
- Concept ID: C0266009
- Finding: Congenital Abnormality
Abnormality of the breast
- Breast aplasia
- Abnormality of the cardiovascular system
- Atrial septal defect
Atrial septal defect
- MedGen UID: 6753
- Concept ID: C0018817
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Complete atrioventricular canal
Complete atrioventricular canal
- MedGen UID: 65132
- Concept ID: C0221215
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Heart block
Heart block
- MedGen UID: 42363
- Concept ID: C0018794
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Second degree atrioventricular block
Second degree atrioventricular block
- MedGen UID: 75546
- Concept ID: C0264906
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Ventricular septal defect
Ventricular septal defect
- MedGen UID: 42366
- Concept ID: C0018818
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Atrial septal defect
- Abnormality of the digestive system
- Anal stenosis
Anal stenosis
- MedGen UID: 82644
- Concept ID: C0262374
- Finding: Anatomical Abnormality
Abnormality of the digestive system
- Anteriorly placed anus
Anteriorly placed anus
- MedGen UID: 333160
- Concept ID: C1838705
- Finding: Finding
Abnormality of the digestive system
- Duodenal stenosis
Duodenal stenosis
- MedGen UID: 66761
- Concept ID: C0238093
- Finding: Anatomical Abnormality
Abnormality of the digestive system
- Imperforate anus
Imperforate anus
- MedGen UID: 1997
- Concept ID: C0003466
- Finding: Congenital Abnormality
Abnormality of the digestive system
- Anal stenosis
- Abnormality of the eye
- Myopia
Myopia
- MedGen UID: 44558
- Concept ID: C0027092
- Finding: Disease or Syndrome
Abnormality of the eye
- Proptosis
Proptosis
- MedGen UID: 41917
- Concept ID: C0015300
- Finding: Disease or Syndrome
Abnormality of the eye
- Strabismus
Strabismus
- MedGen UID: 21337
- Concept ID: C0038379
- Finding: Disease or Syndrome
Abnormality of the eye
- Myopia
- Abnormality of the genitourinary system
- Clitoral hypertrophy
Clitoral hypertrophy
- MedGen UID: 57848
- Concept ID: C0156394
- Finding: Finding
Abnormality of the genitourinary system
- Cryptorchidism
Cryptorchidism
- MedGen UID: 8192
- Concept ID: C0010417
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Hypospadias
Hypospadias
- MedGen UID: 163083
- Concept ID: C0848558
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Micropenis
Micropenis
- MedGen UID: 1633603
- Concept ID: C4551492
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Urethral stricture
Urethral stricture
- MedGen UID: 1641821
- Concept ID: C4551691
- Finding: Pathologic Function
Abnormality of the genitourinary system
- Vesicoureteral reflux
Vesicoureteral reflux
- MedGen UID: 21852
- Concept ID: C0042580
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Clitoral hypertrophy
- Abnormality of the immune system
- Meconium peritonitis
Meconium peritonitis
- MedGen UID: 542628
- Concept ID: C0270250
- Finding: Disease or Syndrome
Abnormality of the immune system
- Meconium peritonitis
- Abnormality of the musculoskeletal system
- Bowing of the legs
Bowing of the legs
- MedGen UID: 1807399
- Concept ID: C5574706
- Finding: Finding
Abnormality of the musculoskeletal system
- Copper beaten skull
Copper beaten skull
- MedGen UID: 370006
- Concept ID: C1969406
- Finding: Finding
Abnormality of the musculoskeletal system
- Craniosynostosis syndrome
Craniosynostosis syndrome
- MedGen UID: 1163
- Concept ID: C0010278
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Joint hypermobility
Joint hypermobility
- MedGen UID: 336793
- Concept ID: C1844820
- Finding: Finding
Abnormality of the musculoskeletal system
- Progressive microcephaly
Progressive microcephaly
- MedGen UID: 340542
- Concept ID: C1850456
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Sagittal craniosynostosis
Sagittal craniosynostosis
- MedGen UID: 140921
- Concept ID: C0432123
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Scoliosis
Scoliosis
- MedGen UID: 11348
- Concept ID: C0036439
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Vertebral segmentation defect
Vertebral segmentation defect
- MedGen UID: 96577
- Concept ID: C0432163
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Wide anterior fontanel
Wide anterior fontanel
- MedGen UID: 400926
- Concept ID: C1866134
- Finding: Finding
Abnormality of the musculoskeletal system
- Bowing of the legs
- Abnormality of the nervous system
- Chiari type I malformation
Chiari type I malformation
- MedGen UID: 196689
- Concept ID: C0750929
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Chiari type I malformation
- Abnormality of the respiratory system
- Pulmonary hypoplasia
Pulmonary hypoplasia
- MedGen UID: 78574
- Concept ID: C0265783
- Finding: Congenital Abnormality
Abnormality of the respiratory system
- Pulmonary hypoplasia
- 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
- Microtia
Microtia
- MedGen UID: 57535
- Concept ID: C0152423
- Finding: Congenital Abnormality
Ear malformation
- Sensorineural hearing loss disorder
Sensorineural hearing loss disorder
- MedGen UID: 9164
- Concept ID: C0018784
- Finding: Disease or Syndrome
Ear malformation
- Hearing impairment
- Growth abnormality
- Decreased body weight
Decreased body weight
- MedGen UID: 1806755
- Concept ID: C5574742
- Finding: Finding
Growth abnormality
- Growth delay
Growth delay
- MedGen UID: 99124
- Concept ID: C0456070
- Finding: Pathologic Function
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.