Clinical Signs and Symptoms
ORPHA:2671 Neu-Laxova syndrome
The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO). Phenotypic abnormalities are presented by order of frequency of occurrence in the patient population, then by alphabetical order inside each frequency group.
- Abnormality of nervous system morphology HP:0012639
- Ichthyosis HP:0008064
- Intrauterine growth retardation HP:0001511
- Lack of skin elasticity HP:0100679
- Microcephaly HP:0000252
- Sloping forehead HP:0000340
- Thick vermilion border HP:0012471
Very frequent
- Abnormal cortical gyration HP:0002536
- Abnormality of neuronal migration HP:0002269
- Abnormality of the cerebellar vermis HP:0002334
- Abnormality of the mouth HP:0000153
- Abnormality of the philtrum HP:0000288
- Abnormality of the skin HP:0000951
- Absent septum pellucidum HP:0001331
- Ambiguous genitalia HP:0000062
- Aplasia/Hypoplasia involving the skeletal musculature HP:0001460
- Broad foot HP:0001769
- Cerebellar hypoplasia HP:0001321
- Dandy-Walker malformation HP:0001305
- Decreased fetal movement HP:0001558
- Depressed nasal ridge HP:0000457
- Everted lower lip vermilion HP:0000232
- External genital hypoplasia HP:0003241
- Flexion contracture HP:0001371
- Hypertelorism HP:0000316
- Hypogonadism HP:0000135
- Large hands HP:0001176
- Lissencephaly HP:0001339
- Macrogyria HP:0007227
- Macrotia HP:0000400
- Muscle spasm HP:0003394
- Muscular dystrophy HP:0003560
- Opisthotonus HP:0002179
- Pachygyria HP:0001302
- Polyhydramnios HP:0001561
- Polymicrogyria HP:0002126
- Proptosis HP:0000520
- Skeletal muscle atrophy HP:0003202
- Trismus HP:0000211
Frequent
- Abnormal eyelash morphology HP:0000499
- Abnormal eyelid morphology HP:0000492
- Abnormal nasolacrimal system morphology HP:0000614
- Abnormality of cardiovascular system morphology HP:0030680
- Abnormality of the hair HP:0001595
- Arthrogryposis multiplex congenita HP:0002804
- Bifid uvula HP:0000193
- Cataract HP:0000518
- Cerebral calcification HP:0002514
- Cleft palate HP:0000175
- Micrognathia HP:0000347
- Micromelia HP:0002983
- Osteomalacia HP:0002749
- Osteopenia HP:0000938
- Osteoporosis HP:0000939
- Prominent occiput HP:0000269
- Pterygium HP:0001059
- Pulmonary hypoplasia HP:0002089
- Retrognathia HP:0000278
- Rickets HP:0002748
- Scoliosis HP:0002650
- Spina bifida HP:0002414
- Submucous cleft hard palate HP:0000176
- Ventriculomegaly HP:0002119
Occasional
Additional information
Further information
Specialised Social Services
Warning
The information provided is based on published scientific articles.
The information provided is estimated for the entire population of patients in routine care. Some phenotypic abnormalities reported here may occur individually with a variable temporality or severity, while others, not listed, may still be encountered. Phenotypic annotations are not yet available for all rare diseases; the annotation process is ongoing.
The information contained in Orphanet is regularly updated. It is possible that discoveries have been made since the last update and have not yet been incorporated.
Professionals are encouraged to always consult the latest scientific publications before making a decision based on the information provided. The information contained in Orphanet is not intended to replace the services of a healthcare professional. Orphanet cannot be held responsible for the deleterious, truncated or erroneous use of any information found in the Orphanet database.