Neu-Laxova syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: NLS
Number of Symptoms 92
OrphanetNr: 2671
OMIM Id: 256520
ICD-10: Q87.8
UMLs: C0265218
MeSH: C536405
MedDRA:
Snomed: 77817004

Prevalence, inheritance and age of onset:

Prevalence: 60 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal ichthyosis syndrome with prominent neurologics signs
 -Rare genetic disease
 -Rare skin disease
Lissencephaly type 3
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease
Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
2
 (HPO:0000520) Proptosis Frequent [Orphanet] 192 / 7739
3
 (HPO:0000568) Microphthalmia 183 / 7739
4
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
5
 (HPO:0006703) Aplasia/Hypoplasia of the lungs Occasional [Orphanet] 79 / 7739
6
 (HPO:0002089) Pulmonary hypoplasia 80 / 7739
7
 (HPO:0006266) Small placenta 2 / 7739
8
 (HPO:0001196) Short umbilical cord 4 / 7739
9
 (HPO:0007525) Yellow subcutaneous tissue covered by thin, scaly skin 1 / 7739
10
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
11
 (HPO:0001631) Atria septal defect 274 / 7739
12
 (HPO:0001655) Patent foramen ovale 31 / 7739
13
 (HPO:0001629) Ventricular septal defect 316 / 7739
14
 (HPO:0002119) Ventriculomegaly Occasional [Orphanet] 253 / 7739
15
 (HPO:0001305) Dandy-Walker malformation Frequent [Orphanet] 79 / 7739
16
 (HPO:0001643) Patent ductus arteriosus 228 / 7739
17
 (HPO:0001669) Transposition of the great arteries 36 / 7739
18
 (HPO:0007430) Generalized edema 5 / 7739
19
 (HPO:0003202) Skeletal muscle atrophy Frequent [Orphanet] 281 / 7739
20
 (HPO:0003394) Muscle cramps Frequent [Orphanet] 106 / 7739
21
 (HPO:0012639) Abnormality of nervous system morphology Very frequent [Orphanet] 25 / 7739
22
 (HPO:0001558) Decreased fetal movement 74 / 7739
23
 (HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
24
 (HPO:0001561) Polyhydramnios Frequent [Orphanet] 191 / 7739
25
 (HPO:0009466) Radial deviation of finger 101 / 7739
26
 (HPO:0001770) Toe syndactyly 149 / 7739
27
 (HPO:0006101) Finger syndactyly 198 / 7739
28
 (HPO:0001769) Broad foot Frequent [Orphanet] 31 / 7739
29
 (HPO:0001838) Rocker bottom foot 85 / 7739
30
 (HPO:0001848) Calcaneovalgus deformity 12 / 7739
31
 (HPO:0009473) Joint contracture of the hand 84 / 7739
32
 (HPO:0001176) Large hands Frequent [Orphanet] 43 / 7739
33
 (HPO:0002983) Micromelia Occasional [Orphanet] 130 / 7739
34
 (HPO:0000277) Abnormality of the mandible Occasional [Orphanet] 394 / 7739
35
 (HPO:0000347) Micrognathia 426 / 7739
36
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
37
 (HPO:0000269) Prominent occiput Occasional [Orphanet] 43 / 7739
38
 (HPO:0000340) Sloping forehead Very frequent [Orphanet] 86 / 7739
39
 (HPO:0000470) Short neck 345 / 7739
40
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
41
 (HPO:0001274) Agenesis of corpus callosum 142 / 7739
42
 (HPO:0002324) Hydranencephaly 9 / 7739
43
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Frequent [Orphanet] 180 / 7739
44
 (HPO:0002414) Spina bifida Occasional [Orphanet] 47 / 7739
45
 (HPO:0004349) Reduced bone mineral density Occasional [Orphanet] 165 / 7739
46
 (HPO:0001059) Pterygium Occasional [Orphanet] 16 / 7739
47
 (HPO:0001595) Abnormality of the hair Occasional [Orphanet] 89 / 7739
48
 (HPO:0000561) Absent eyelashes 18 / 7739
49
 (HPO:0000036) Abnormality of the penis Occasional [Orphanet] 8 / 7739
50
 (HPO:0000028) Cryptorchidism 347 / 7739
51
 (HPO:0000062) Ambiguous genitalia Frequent [Orphanet] 74 / 7739
52
 (HPO:0000136) Bifid uterus 6 / 7739
53
 (HPO:0000153) Abnormality of the mouth Frequent [Orphanet] 60 / 7739
54
 (HPO:0000179) Thick lower lip vermilion 72 / 7739
55
 (HPO:0012471) Thick vermilion border Very frequent [Orphanet] 115 / 7739
56
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
57
 (HPO:0000175) Cleft palate 349 / 7739
58
 (HPO:0000204) Cleft upper lip Occasional [Orphanet] 193 / 7739
59
 (HPO:0000232) Everted lower lip vermilion Frequent [Orphanet] 90 / 7739
60
 (HPO:0000457) Depressed nasal ridge Frequent [Orphanet] 85 / 7739
61
 (HPO:0011224) Ablepharon 2 / 7739
62
 (HPO:0000606) Abnormality of the periorbital region Occasional [Orphanet] 96 / 7739
63
 (HPO:0000400) Macrotia 108 / 7739
64
 (HPO:0000951) Abnormality of the skin Frequent [Orphanet] 147 / 7739
65
 (HPO:0008064) Ichthyosis Very frequent [Orphanet] 108 / 7739
66
 (HPO:0100679) Lack of skin elasticity Very frequent [Orphanet] 29 / 7739
67
 (HPO:0000104) Renal agenesis 68 / 7739
68
 (HPO:0002514) Cerebral calcification Occasional [Orphanet] 89 / 7739
69
 (HPO:0001371) Flexion contracture 220 / 7739
70
 (HPO:0012385) Camptodactyly 113 / 7739
71
 (HPO:0002803) Congenital contracture Occasional [Orphanet] 45 / 7739
72
 (HPO:0001557) Prenatal movement abnormality Frequent [Orphanet] 16 / 7739
73
 (HPO:0008373) Puberty and gonadal disorders Frequent [Orphanet] 156 / 7739
74
 (HPO:0002536) Abnormal cortical gyration Frequent [Orphanet] 72 / 7739
75
 (HPO:0040064) Abnormality of limbs Very frequent [Orphanet] 16 / 7739
76
 (HPO:0002334) Abnormality of the cerebellar vermis Frequent [Orphanet] 137 / 7739
77
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
78
 (HPO:0001321) Cerebellar hypoplasia 114 / 7739
79
 (HPO:0002190) Choroid plexus cyst 5 / 7739
80
 (HPO:0030084) Clinodactyly 90 / 7739
81
 (HPO:0011420) Death Very frequent [Orphanet] 184 / 7739
82
 (HPO:0001339) Lissencephaly 30 / 7739
83
 (HPO:0400004) Long ear Frequent [Orphanet] 94 / 7739
84
 (HPO:0003826) Stillbirth 40 / 7739
85
 (MedDRA:10058668) Clinodactyly 91 / 7739
86
 (OMIM) Absence of olfactory bulbs 1 / 7739
87
 (OMIM) Absent scalp hair 2 / 7739
88
 (OMIM) Poorly mineralized bones 1 / 7739
89
 (OMIM) Puffiness of feet 1 / 7739
90
 (OMIM) Puffiness of hands 1 / 7739
91
 (OMIM) Round, gaping mouth 1 / 7739
92
 (OMIM) Short limbs 17 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Neu-Laxova syndrome is an autosomal recessive lethal multiple malformation syndrome characterized by ichthyosis, marked intrauterine growth restriction, microcephaly, short neck, central nervous system anomalies (lissencephaly, cerebellar hypoplasia and/or abnormal/agenesis of the corpus callosum), limb deformities, hypoplastic lungs, edema, ...
Diagnosis OMIM Muller et al. (1987) demonstrated the usefulness of ultrasonography in the monitoring of 'at risk' pregnancies. Shapiro et al. (1992) made the diagnosis of presumed NLS by ultrasonography in a 32-week fetus. The findings included intrauterine growth retardation, ...
Clinical Description OMIM Neu et al. (1971) described 3 sibs with intrauterine growth retardation and multiple congenital anomalies, including microcephaly and abnormal limbs, skin, external genitalia, and placenta. Two girls were stillborn and a boy died at 7 weeks. Laxova et ...