Meier-Gorlin syndrome 2
Summary
Available tests
Clinical features
Help- Abnormality of head or neck
- Narrow mouth
Narrow mouth
- MedGen UID: 44435
- Concept ID: C0026034
- Finding: Congenital Abnormality
Abnormality of head or neck
- Smooth philtrum
Smooth philtrum
- MedGen UID: 222980
- Concept ID: C1142533
- Finding: Finding
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
- Narrow mouth
- Abnormality of limbs
- Patellar aplasia
Patellar aplasia
- MedGen UID: 401474
- Concept ID: C1868578
- Finding: Congenital Abnormality
Abnormality of limbs
- Patellar aplasia
- Abnormality of the breast
- Breast hypoplasia
Breast hypoplasia
- MedGen UID: 75594
- Concept ID: C0266013
- Finding: Congenital Abnormality
Abnormality of the breast
- Breast hypoplasia
- Abnormality of the digestive system
- Feeding difficulties
Feeding difficulties
- MedGen UID: 65429
- Concept ID: C0232466
- Finding: Finding
Abnormality of the digestive system
- Gastroesophageal reflux
Gastroesophageal reflux
- MedGen UID: 1368658
- Concept ID: C4317146
- Finding: Finding
Abnormality of the digestive system
- Feeding difficulties
- Abnormality of the ear
- Abnormal pinna morphology
Abnormal pinna morphology
- MedGen UID: 167800
- Concept ID: C0857379
- Finding: Congenital Abnormality
Abnormality of the ear
- Microtia
Microtia
- MedGen UID: 57535
- Concept ID: C0152423
- Finding: Congenital Abnormality
Abnormality of the ear
- Abnormal pinna morphology
- Abnormality of the genitourinary system
- Clitoral hypertrophy
Clitoral hypertrophy
- MedGen UID: 57848
- Concept ID: C0156394
- Finding: Finding
Abnormality of the genitourinary system
- Hypoplastic labia majora
Hypoplastic labia majora
- MedGen UID: 107566
- Concept ID: C0566899
- Finding: Finding
Abnormality of the genitourinary system
- Labial hypoplasia
Labial hypoplasia
- MedGen UID: 342473
- Concept ID: C1850325
- Finding: Finding
Abnormality of the genitourinary system
- Clitoral hypertrophy
- Abnormality of the musculoskeletal system
- Camptodactyly
Camptodactyly
- MedGen UID: 195780
- Concept ID: C0685409
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Delayed skeletal maturation
Delayed skeletal maturation
- MedGen UID: 108148
- Concept ID: C0541764
- Finding: Finding
Abnormality of the musculoskeletal system
- Dolichocephaly
Dolichocephaly
- MedGen UID: 65142
- Concept ID: C0221358
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Joint hypermobility
Joint hypermobility
- MedGen UID: 336793
- Concept ID: C1844820
- Finding: Finding
Abnormality of the musculoskeletal system
- Microcephaly
Microcephaly
- MedGen UID: 1644158
- Concept ID: C4551563
- Finding: Finding
Abnormality of the musculoskeletal system
- Micrognathia
Micrognathia
- MedGen UID: 44428
- Concept ID: C0025990
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Slender long bone
Slender long bone
- MedGen UID: 331446
- Concept ID: C1833144
- Finding: Finding
Abnormality of the musculoskeletal system
- Camptodactyly
- Abnormality of the nervous system
- Abnormally high-pitched voice
Abnormally high-pitched voice
- MedGen UID: 66836
- Concept ID: C0241703
- Finding: Finding
Abnormality of the nervous system
- Abnormally high-pitched voice
- Abnormality of the respiratory system
- Bronchomalacia
Bronchomalacia
- MedGen UID: 82679
- Concept ID: C0264353
- Finding: Disease or Syndrome
Abnormality of the respiratory system
- Tracheomalacia
Tracheomalacia
- MedGen UID: 215296
- Concept ID: C0948187
- Finding: Disease or Syndrome
Abnormality of the respiratory system
- Bronchomalacia
- Growth abnormality
- Birth length less than 3rd percentile
Birth length less than 3rd percentile
- MedGen UID: 340924
- Concept ID: C1855650
- Finding: Finding
Growth abnormality
- Failure to thrive
Failure to thrive
- MedGen UID: 746019
- Concept ID: C2315100
- Finding: Disease or Syndrome
Growth abnormality
- Fetal growth restriction
Fetal growth restriction
- MedGen UID: 4693
- Concept ID: C0015934
- Finding: Pathologic Function
Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Birth length less than 3rd percentile
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.