Neu-Laxova syndrome 2
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- GeneReview Scope
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Saskia N van der Crabben
- Tom J de Koning
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (21 available)
Clinical features
Help- Abnormality of head or neck
- Ablepharon
Ablepharon
- MedGen UID: 120585
- Concept ID: C0266574
- 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
- Depressed nasal ridge
Depressed nasal ridge
- MedGen UID: 334631
- Concept ID: C1842876
- Finding: Finding
Abnormality of head or neck
- High palate
High palate
- MedGen UID: 66814
- Concept ID: C0240635
- Finding: Congenital Abnormality
Abnormality of head or neck
- Short neck
Short neck
- MedGen UID: 99267
- Concept ID: C0521525
- Finding: Finding
Abnormality of head or neck
- Sloping forehead
Sloping forehead
- MedGen UID: 346640
- Concept ID: C1857679
- Finding: Finding
Abnormality of head or neck
- Ablepharon
- Abnormality of limbs
- Congenital vertical talus
Congenital vertical talus
- MedGen UID: 66821
- Concept ID: C0240912
- Finding: Congenital Abnormality
Abnormality of limbs
- Finger syndactyly
Finger syndactyly
- MedGen UID: 65139
- Concept ID: C0221352
- Finding: Congenital Abnormality
Abnormality of limbs
- Toe syndactyly
Toe syndactyly
- MedGen UID: 75581
- Concept ID: C0265660
- Finding: Congenital Abnormality
Abnormality of limbs
- Congenital vertical talus
- Abnormality of metabolism/homeostasis
- Edema
Edema
- MedGen UID: 4451
- Concept ID: C0013604
- Finding: Pathologic Function
Abnormality of metabolism/homeostasis
- Edema
- 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
- Decreased fetal movement
- Abnormality of the breast
- Wide intermamillary distance
Wide intermamillary distance
- MedGen UID: 473489
- Concept ID: C1827524
- Finding: Finding
Abnormality of the breast
- Wide intermamillary distance
- Abnormality of the digestive system
- Protuberant abdomen
Protuberant abdomen
- MedGen UID: 340750
- Concept ID: C1854928
- Finding: Finding
Abnormality of the digestive system
- Protuberant abdomen
- Abnormality of the eye
- Cataract
Cataract
- MedGen UID: 39462
- Concept ID: C0086543
- Finding: Disease or Syndrome
Abnormality of the eye
- Hypertelorism
Hypertelorism
- MedGen UID: 9373
- Concept ID: C0020534
- Finding: Finding
Abnormality of the eye
- Proptosis
Proptosis
- MedGen UID: 41917
- Concept ID: C0015300
- Finding: Disease or Syndrome
Abnormality of the eye
- Cataract
- Abnormality of the integument
- Ichthyosis
Ichthyosis
- MedGen UID: 7002
- Concept ID: C0020757
- Finding: Disease or Syndrome
Abnormality of the integument
- Ichthyosis
- 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
- Scoliosis
Scoliosis
- MedGen UID: 11348
- Concept ID: C0036439
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Microcephaly
- Abnormality of the nervous system
- Cerebellar hypoplasia
Cerebellar hypoplasia
- MedGen UID: 120578
- Concept ID: C0266470
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Lissencephaly
Lissencephaly
- MedGen UID: 78604
- Concept ID: C0266463
- Finding: Finding
Abnormality of the nervous system
- Spina bifida
Spina bifida
- MedGen UID: 38283
- Concept ID: C0080178
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Ventriculomegaly
Ventriculomegaly
- MedGen UID: 480553
- Concept ID: C3278923
- Finding: Finding
Abnormality of the nervous system
- Cerebellar hypoplasia
- 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
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