Lethal congenital contracture syndrome 9
Summary
Available tests
Clinical tests (22 available)
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
- Depressed nasal bridge
Depressed nasal bridge
- MedGen UID: 373112
- Concept ID: C1836542
- Finding: Finding
Abnormality of head or neck
- Thin upper lip vermilion
Thin upper lip vermilion
- MedGen UID: 355352
- Concept ID: C1865017
- Finding: Finding
Abnormality of head or neck
- Triangular face
Triangular face
- MedGen UID: 324383
- Concept ID: C1835884
- Finding: Finding
Abnormality of head or neck
- Anteverted nares
- Abnormality of limbs
- Clubfoot
Clubfoot
- MedGen UID: 3130
- Concept ID: C0009081
- Finding: Congenital Abnormality
Abnormality of limbs
- Thumbs, congenital Clasped
Thumbs, congenital Clasped
- MedGen UID: 98140
- Concept ID: C0431886
- Finding: Congenital Abnormality
Abnormality of limbs
- Ulnar deviation of the hand
Ulnar deviation of the hand
- MedGen UID: 66031
- Concept ID: C0241521
- Finding: Finding
Abnormality of limbs
- Clubfoot
- Abnormality of prenatal development or birth
- Absence of stomach bubble on fetal sonography
Absence of stomach bubble on fetal sonography
- MedGen UID: 869203
- Concept ID: C4023625
- Finding: Finding
Abnormality of prenatal development or birth
- Decreased fetal movement
Decreased fetal movement
- MedGen UID: 68618
- Concept ID: C0235659
- Finding: Finding
Abnormality of prenatal development or birth
- Polyhydramnios
Polyhydramnios
- MedGen UID: 6936
- Concept ID: C0020224
- Finding: Pathologic Function
Abnormality of prenatal development or birth
- Short umbilical cord
Short umbilical cord
- MedGen UID: 78620
- Concept ID: C0266786
- Finding: Finding
Abnormality of prenatal development or birth
- Absence of stomach bubble on fetal sonography
- Abnormality of the eye
- Hypertelorism
Hypertelorism
- MedGen UID: 9373
- Concept ID: C0020534
- Finding: Finding
Abnormality of the eye
- Hypertelorism
- Abnormality of the integument
- Antecubital pterygium syndrome
Antecubital pterygium syndrome
- MedGen UID: 401231
- Concept ID: C1867439
- Finding: Disease or Syndrome
Abnormality of the integument
- Axillary pterygium
Axillary pterygium
- MedGen UID: 335019
- Concept ID: C1844738
- Finding: Finding
Abnormality of the integument
- Antecubital pterygium syndrome
- Abnormality of the musculoskeletal system
- Abnormality of the diaphragm
Abnormality of the diaphragm
- MedGen UID: 338566
- Concept ID: C1848873
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Ankylosis
Ankylosis
- MedGen UID: 8101
- Concept ID: C0003090
- Finding: Pathologic Function
Abnormality of the musculoskeletal system
- Arthrogryposis multiplex congenita
Arthrogryposis multiplex congenita
- MedGen UID: 1830310
- Concept ID: C5779613
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Centrally nucleated skeletal muscle fibers
Centrally nucleated skeletal muscle fibers
- MedGen UID: 330782
- Concept ID: C1842170
- Finding: Finding
Abnormality of the musculoskeletal system
- Congenital contracture
Congenital contracture
- MedGen UID: 83066
- Concept ID: C0332878
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Elbow extension contracture
Elbow extension contracture
- MedGen UID: 592334
- Concept ID: C0409337
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Flexion contracture
Flexion contracture
- MedGen UID: 83069
- Concept ID: C0333068
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Increased variability in muscle fiber diameter
Increased variability in muscle fiber diameter
- MedGen UID: 336019
- Concept ID: C1843700
- Finding: Finding
Abnormality of the musculoskeletal system
- Joint contracture of the hand
Joint contracture of the hand
- MedGen UID: 56382
- Concept ID: C0158113
- Finding: Finding
Abnormality of the musculoskeletal system
- Micrognathia
Micrognathia
- MedGen UID: 44428
- Concept ID: C0025990
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Muscle fiber atrophy
Muscle fiber atrophy
- MedGen UID: 451037
- Concept ID: C0333751
- Finding: Cell or Molecular Dysfunction
Abnormality of the musculoskeletal system
- Myopathy
Myopathy
- MedGen UID: 10135
- Concept ID: C0026848
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Thoracic kyphoscoliosis
Thoracic kyphoscoliosis
- MedGen UID: 863902
- Concept ID: C4015465
- Finding: Finding
Abnormality of the musculoskeletal system
- Wrist flexion contracture
Wrist flexion contracture
- MedGen UID: 592338
- Concept ID: C0409345
- Finding: Acquired Abnormality
Abnormality of the musculoskeletal system
- Abnormality of the diaphragm
- Abnormality of the respiratory system
- Cardiorespiratory arrest
Cardiorespiratory arrest
- MedGen UID: 154664
- Concept ID: C0600228
- Finding: Pathologic Function
Abnormality of the respiratory system
- Pulmonary hypoplasia
Pulmonary hypoplasia
- MedGen UID: 78574
- Concept ID: C0265783
- Finding: Congenital Abnormality
Abnormality of the respiratory system
- Cardiorespiratory arrest
- Ear malformation
- Low-set ears
Low-set ears
- MedGen UID: 65980
- Concept ID: C0239234
- Finding: Congenital Abnormality
Ear malformation
- Low-set ears
- Growth abnormality
- Fetal growth restriction
Fetal growth restriction
- MedGen UID: 4693
- Concept ID: C0015934
- Finding: Pathologic Function
Growth abnormality
- Fetal growth restriction
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.