ORPHA:2671

Neu-Laxova syndrome

Type: Malformation syndrome
Group: Disorder
Inheritance: Autosomal recessive
Age of onset: Antenatal
Status: active

A rare multiple congenital anomalies/dysmorphic syndrome characterized by ichthyosis, severe microcephaly, intrauterine growth restriction (IUGR), joint contractures, edema, cataracts and morphological central nervous system (CNS) abnormalities which results from distinct enzymatic deficiencies in the serine biosynthesis pathway. It is usually lethal at birth.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Neu-Laxova syndrome
fr	Syndrome de Neu-Laxova
de	Neu-Laxova-Syndrom
es	Síndrome de Neu-Laxova
it	Sindrome di Neu-Laxova	Deficit di 3-fosfoglicerato deidrogenasi, forma neonatale
nl	Syndroom van Neu-Laxova
pt	Síndrome Neu-Laxova
pl	Zespół Neu i Laxova	Niedobór dehydrogenazy 3-fosfoglicerynianu, postać noworodkowa
cs	Neuův-Laxové syndrom	Deficit 3-fosfoglycerát dehydrogenázy, novorozenecká forma · Neu-Laxové syndrom
uk	Синдром Ноя-Лаксова
zh	Neu-Laxova综合征
tr	Neu-Laxova sendromu

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	256520	BTNT		validated
OMIM	616038	BTNT		validated
ICD-10	Q87.8	NTBT	attributed	validated
ICD-11	LD20.1	NTBT	index	validated
MONDO	0000179	E		validated
MeSH	C536405	E		validated
UMLS	C0265218	E		validated
GARD	102	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:93890Rare developmental defect during embryogenesis

Parents in the classifications (5):

ORPHA:281241Autosomal ichthyosis syndrome with fatal disease course
rare genetic diseases; rare skin diseases
ORPHA:281238Autosomal ichthyosis syndrome with prominent neurologic signs
rare genetic diseases; rare skin diseases
ORPHA:102011Lissencephaly type 3
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
ORPHA:98563Microblepharon-ablephara syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
ORPHA:35705Neurometabolic disorder due to serine deficiency
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases

Children (3):

Genes

0 direct · 3 via subtypes

Orphanet records no gene directly on this code.

Recorded by Orphanet on subtypes of this disorder:

Gene	Subtype	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
PHGDH	ORPHA:583607Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:8923	ENSG00000092621	606879	1p12	phosphoglycerate dehydrogenase	24836451[PMID]
PSAT1	ORPHA:583602Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency	Disease-causing germline mutation(s) in	Assessed	HGNC:19129	ENSG00000135069	610936	9q21.2	phosphoserine aminotransferase 1	25152457[PMID]
PSPH	ORPHA:583612Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency	Disease-causing germline mutation(s) in	Assessed	HGNC:9577	ENSG00000146733	172480	7p11.2	phosphoserine phosphatase	25152457[PMID]

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		91 cases	Worldwide	Case(s)	Validated	25152457[PMID]_24371398[PMID]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	ORPHANET_25152457[PMID]_24371398[PMID]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

HPO phenotypes

63 annotations · validated 2017-07-20

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0012639	Abnormal nervous system morphology
HP:0008064	Ichthyosis
HP:0001511	Intrauterine growth retardation
HP:0100679	Lack of skin elasticity
HP:0000252	Microcephaly
HP:0000340	Sloping forehead
HP:0012471	Thick vermilion border
Frequent (79-30%)
HP:0002536	Abnormal cortical gyration
HP:0002269	Abnormality of neuronal migration
HP:0002334	Abnormality of the cerebellar vermis
HP:0000153	Abnormality of the mouth
HP:0000288	Abnormality of the philtrum
HP:0000951	Abnormality of the skin
HP:0001331	Absent septum pellucidum
HP:0000062	Ambiguous genitalia
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature
HP:0001769	Broad foot
HP:0001321	Cerebellar hypoplasia
HP:0001305	Dandy-Walker malformation
HP:0001558	Decreased fetal movement
HP:0000457	Depressed nasal ridge
HP:0000232	Everted lower lip vermilion
HP:0003241	External genital hypoplasia
HP:0001371	Flexion contracture
HP:0000316	Hypertelorism
HP:0000135	Hypogonadism
HP:0001176	Large hands
HP:0001339	Lissencephaly
HP:0000400	Macrotia
HP:0003394	Muscle spasm
HP:0003560	Muscular dystrophy
HP:0002179	Opisthotonus
HP:0001302	Pachygyria
HP:0001302	Pachygyria
HP:0001561	Polyhydramnios
HP:0002126	Polymicrogyria
HP:0000520	Proptosis
HP:0003202	Skeletal muscle atrophy
HP:0000211	Trismus
Occasional (29-5%)
HP:0030680	Abnormal cardiovascular system morphology
HP:0000499	Abnormal eyelash morphology
HP:0000492	Abnormal eyelid morphology
HP:0000614	Abnormal nasolacrimal system morphology
HP:0001595	Abnormality of the hair
HP:0002804	Arthrogryposis multiplex congenita
HP:0000193	Bifid uvula
HP:0000518	Cataract
HP:0002514	Cerebral calcification
HP:0000175	Cleft palate
HP:0000347	Micrognathia
HP:0002983	Micromelia
HP:0002749	Osteomalacia
HP:0000938	Osteopenia
HP:0000939	Osteoporosis
HP:0000269	Prominent occiput
HP:0001059	Pterygium
HP:0002089	Pulmonary hypoplasia
HP:0000278	Retrognathia
HP:0002748	Rickets
HP:0002650	Scoliosis
HP:0002414	Spina bifida
HP:0000176	Submucous cleft hard palate
HP:0002119	Ventriculomegaly

Run the differential on the 7 obligate / very frequent terms

Sources for this card

Orphanet page: orpha.net/en/disease/detail/2671
This record as JSON: /data/d/2671.json