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Neu-Laxova syndrome

Keywords and Terms: Neu-Laxova syndrome, microcephaly, ocular hypertelorism, craniofacial, autosomal recessive, lymphedema, edema, autopsy, Dandy-Walker Malformation, hepatomegaly, transposition of great vessels, IUGR, ichthyosis, Ultrasonography, Cerebellar hypoplasia, Cerebro-osseous-digital syndrome, lethal skeletal dysplasia, lymphatic dysplasia, limb contractures, ocular proptosis, edematous fetus.


Genetic disorder inherited as an autosomal recessive trait.

Risk Factors

Though it is believed to be genetic, researchers have attempted to isolate specific markers such as consanguinity and history of intrauterine death or stillbirth in siblings to help in the prenatal diagnosis of Neu-Laxova Syndrome.


Can be diagnosed through the use of sonography.

“The ultrasonographic may include receding forehead, hypertelorism, cataract, severe ectropion, proptosis, prominent eyes, malformed ears, flat nose, micrognathia, severe microcephaly, lissencephaly, dysgenesis of the corpus callosum, hypoplasia of the cerebellum, Dandy-Walker anomaly, choroid plexus cysts, unilateral renal agenesis, abnormal external genitalia (curved penis, cryptorchidism), hypoechoic skeletal structures, kyphosis, contractures of limbs, swelling and webbing of the knee and elbow joints, and severe edema of the hands and feet, giving the impression of absent digits, edema, polyhydramnios, intrauterine growth retardation and feeble fetal.” (1)

Differential diagnosis:

Lissencephaly, cerebrooculofacioskeletal syndrome, arthrogryposis.


Severe growth delays before birth (intrauterine growth retardation); low birth weight and length; and distinctive abnormalities of the head and facial (craniofacial) region, marked smallness of the head (microcephaly), sloping of the forehead, widely spaced eyes (ocular hypertelorism), generalized edema, Yellow subcutaneous tissue, Syndactyly of fingers, Syndactyly of toes Puffy hands, Puffy feet, Persistent embryonic eye structures, Absent eyelashes, Absent head hair, Underdeveloped genitals, Polyhydramnios, Short umbilical cord, Small placenta..

Also, permanent flexion and immobilization of multiple joints (flexion contractures); other limb malformations; and/or abnormalities of the brain, skin, genitals, kidneys, and/or heart.


Neu-Laxova is universally fatal. There is no known treatment or preventative measures that can be done.


Neu-Laxova syndrome is fatal. Affected individuals are usually stillborn or die within six months of birth.

(1) Sonoworld

Abstracts and Studies

Rare manifestations of Neu-laxova syndrome.

Feb 2012

Badakali M, Badakali A, Dombale V. Source Department of Obstetrics and Gynecology, S.N. Medical College and Research Centre, Bagalkot, India.


Keywords Neu-Laxova syndrome, growth retardation, autopsy, Dandy-Walker malformation, hepatomegaly, transposition of great vessels

Neu-Laxova syndrome is a rare lethal congenital disorder involving multiple systems. Intrauterine growth retardation, ichthyosis, microcephaly, abnormal facial findings and limb contractures are its key features. We present a stillborn female baby of 1.5 kg with characteristic features including growth retardation, microcephaly, severe ectropion, micrognathia, flattened nose, eclabion, large ears, puffy hands and feet. In addition to these features, lissencephaly, severely hypoplastic cerebrum and corpus callossum, Dandy-Walker malformation, Transposition of Great Vessels and hepatomegaly were noted at autopsy. The patient was born at 38 weeks of gestation to consanguineous (second degree) Indian parents. The mother was 26 year old second gravida with lack of prenatal followup. Therefore, the condition was diagnosed postnatally. Because of the autosomal recessive inheritence of Neu-Laxova syndrome, in countries with high rates of consanguineous marriage, serial prenatal ultrasound examinations with genetic counseling should be performed on pregnant women at high risk to offer termination of affected pregnancies.


Neu-Laxova syndrome: a prenatal diagnosis.

Oct 2011

Dhillon P, Bofill JA.


Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, University of Mississippi Medical Center, Jackson. 39216, USA.


Neu-Laxova syndrome is a rare autosomal recessive congenital disorder. Prenatal diagnosis is possible via second trimester ultrasonography. Characteristic ultrasound findings include hydramnios, severe intrauterine growth restriction, craniofacial and CNS anomalies, limb contractures, skin lymphedema, skin restrictions, and akinesia. Fewer than 70 cases have been reported, and no survival beyond six months of age is known with most neonatal deaths occurring within the first few days of life. Overall, this is a lethal condition after birth secondary to severe lung hypoplasia and brain anomalies. Herein we report a recent case from our institution with prenatal diagnosis.


A spectrum of phenotypical expression OF Neu-Laxova syndrome: Three case reports and a review of the literature.

Jan 2010

Coto-Puckett WL, Gilbert-Barness E, Steelman CK, Stuart T, Robinson HB, Shehata BM.


Department of Neonatology, Emory University and Children's Healthcare of Atlanta, Georgia, USA.


Keywords Neu-Laxova, IUGR, ichthyosis

Neu-Laxova syndrome is a rare autosomal recessive disorder characterized by severe intra-uterine growth restriction, extreme microcephaly, marked edema with skin restriction, ichthyosis, craniofacial anomalies, limb deformities, and a spectrum of central nervous system malformations. Less than 70 cases have been described since the first report in 1971. To this day the etiology and genetic basis remains unknown. Consanguinity has been reported. Some authors have postulated the syndrome to be a form of neuro-ectodermal dysplasia, while others suggest that it is a malformationsyndrome secondary to severe skin restriction. Although the outcome of this syndrome is lethal, a single case of longer survival (6 months) has been reported. The majority of cases are stillborn or die shortly after birth. Thus, it is clear that Neu-Laxova exhibits a spectrum of disease, with varying degrees of phenotypic expression. We are presenting three new cases of Neu-Laxova syndrome; two were stillbirths and one lived for eleven weeks. Our microscopic and post-mortem findings in these three cases display the vast spectrum of this rare syndrome.


Neu-Laxova syndrome in an appropriate for gestational age newborn.


Dilli D, Yaşar H, Dilmen U, Ceylaner G.


Department of Pediatrics, Ministry of Health Ankara Training and Research Hospital, Ankara, Turkey.


Keywords: Appropriate for gestational age, Newborn, Neu-laxova syndrome

Neu-Laxova syndrome is a rare lethal congenital disorder involving multiple systems. Intrauterine growth retardation, ichthyosis, microcephaly, abnormal facial findings, and limb contractures are its key features. We present a case of Neu-Laxova syndrome in a male appropriate for gestational age (AGA) newborn with characteristic features including ichthyosis, microcephaly, severe ectropion, rudimentary ears, eclabion, limb contractures, and hypoplastic genitalia. The patient was born at 38 weeks of gestation to consanguinous Turkish parents. The mother was a 20-year-old primi gravida with lack of prenatal follow-up. Therefore, the case was diagnosed postnatally, and he died 5 days later. Because of the autosomal recessive inheritance of Neu-Laxova syndrome, in countries with high rates of consanguineous marriage, such as Turkey, physicians have to know this syndrome, and serial prenatal ultrasound examinations with genetic counseling should be performed on pregnant women at high risk. To the best of our knowledge, this is the first case described in an AGA newborn.


A rare cause of polyhydramnios: Neu-Laxova syndrome.


Martín A, Eguiluz I, Barber MA, Medina N, Plasencia W, García-Alix A, García-Hernández JA.


Gynaecology and Obstetrics Department, University Hospital Materno Infantil of the Canaries, Las Palmas de Gran Canaria, Canary Islands, Spain.


Keywords Neu–Laxova syndrome, microcephaly, central nervous system alterations, facial abnormalities, ichthyosis, generalized edema, polyhydramnios

Neu-Laxova syndrome is a rare group of congenital malformations including intrauterine growth retardation (IUGR), microcephaly, central nervous system alterations, facial abnormalities, ichthyosis, limb abnormalities, generalized edema, polyhydramnios, and perinatal death. Thirty cases have been identified since the publication of the first two cases and only five of them had a prenatal diagnosis. The earliest diagnosis in a published case was at week 32 of gestation. This study illustrates that the detection of the syndrome during the second trimester of gestation is possible, with emphasis on the detection of the early appearance of polyhydramnios and the association of the syndrome with the Arabic ethnic group.


Second trimester diagnosis of Neu Laxova syndrome.


Shivarajan MA, Suresh S, Jagadeesh S, Lata S, Bhat L.


Department of Clinical Genetics & Dysmorphology, Mediscan Prenatal Diagnosis & Fetal Therapy Centre, Royapettah, Chennai, India.


Keywords: Neu Laxova; microcephaly; ichthyosis; joint contractures

This is the first report of a prenatally diagnosed case of Neu Laxova syndrome (NLS) from India. This also includes a case of NLS in monochorionic diamniotic twins and two more cases in which we were able to detect most of the features of NLS as early as 19 to 20 weeks by routine antenatal ultrasonography. Severe intrauterine growth retardation (IUGR), microcephaly, central nervous system (CNS) abnormality, joint contractures, and abnormal facies are the major diagnostic features observed in prenatal ultrasonography. Risk factors such as consanguinity and history of intrauterine death or stillbirth in siblings have been noted in all the cases, but none of the three families that were reported had previously had an affected fetus. The spectrum of skin manifestations and frequency of occurrence of major clinical features of the syndrome have been discussed. Review of the literature on NLS and possibility of detecting the syndrome in the second trimester is discussed.

Wiley On Line

Prenatal diagnosis of Neu-Laxova syndrome: a case report.


Aslan H, Gul A, Polat I, Mutaf C, Agar M, Ceylan Y.


Department of Perinatology, SSK Bakirkoy Maternity and Children Hospital, Istanbul, Turkey.


BACKGROUND: Neu-Laxova syndrome is a rare congenital abnormality involving multiple systems. We report a case ofNeu-Laxova syndrome (NLS) diagnosed prenatally by ultrasound examination.

CASE PRESENTATION: A 29-year-old gravida 3, para 2 woman was first seen in our antenatal clinic at 38 weeks' pregnancy. Except for the consanguinity and two previous abnormal stillborn babies her medical history was unremarkable. On ultrasound examination microcephaly, flat forehead, micrognathia, intrauterine growth restriction, generalized edema of the skin, hypoplastic chest, excessive soft tissue deposition of hands and feet, joint contractures and a penis without scrotal sacs were detected. She delivered a 2000 g male fetus. He died five minutes after delivery. Postmortem examination confirmed the diagnosis of Neu-Laxova syndrome.

CONCLUSION: Because of the autosomal recessive inheritance of Neu-Laxova syndrome genetic counseling and early-serial ultrasound examination should be performed at risk families. Early diagnosis of the disease may offer termination of the pregnancy as an option.

Full Text Article


External Links


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Parent Matching Organizations

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ICD-9 758.33

ICD-10 Q93.88

OMIM 256250

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neu_laxova.txt · Last modified: 2012/10/16 14:40 (external edit)