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Neu-Laxova Syndrome Type 2



  • Weiner, Bernard Gonik, Caroline Crowther, and Stephen Robson present an evidence-based approach to the available management options, equipping you with the most appropriate strategy for each patient.[books.google.de]
  • Brain malformations may be present as well. Genetics This disorder has a transmission pattern consistent with autosomal recessive inheritance. Homozygous or compound heterozygous mutations in the PSAT1 gene (9q21.2) are responsible.[disorders.eyes.arizona.edu]
  • Presents ultrasound video ciips as they would appear in practice on the bonus DVD.[books.google.com]
  • . / Weston, William L. 2003 81 Crusted Red Papules on the Head and Trunk Shum, K. W. / Ostrowski, J. L. / Gerrard, M. / Thomas, S. E. 2003 84 Society for Pediatric Dermatology 2002 Annual Meeting Proceedings Chamlin, S.[tib.eu]
  • It is exceedingly rare. 1045 A ‘groversid’ variant with smooth papules has been reported.[plasticsurgerykey.com]
Shagreen Patch
  • . / Mahendran, Rajini / Pollock, Bruce / Clark, Sheila 2003 453 Giant shagreen patch associated with spina bifida occulta in tuberous sclerosis Mohan Thappa, Devinder / Jeevankumar, B. / Karthikeyan, Kaliaperumal / Udhayshankar, C. / Jayanthi, S. 2003[tib.eu]
Facial Papule
  • . / Clark, Edward / Marzec, Tomasz 2003 315 Tinea Nigra: Report of Two Cases in Infants Pegas, José Roberto / Criado, Paulo Ricardo / Lucena, Suzana Kilian / De Oliveira, Marco Antônio 2003 318 Necrotic Facial Papules in an Adolescent: C2 Deficiency with[tib.eu]
Reduced Fetal Movement
  • The tight skin of the fetus reduces fetal movement leading to failure of swallowing and contractures are development. [1] The exact cause for this condition has not been established, but various theories have been postulated.[ijpmonline.org]
  • These may include severely delayed growth (intrauterine growth retardation); excessive fluid in the thin-walled membrane (amniotic sac) surrounding the fetus during pregnancy (polyhydramnios); abnormally reduced fetal movements; a short umbilical cord[rarediseases.org]
Deformed Limbs
  • Affected patients have abnormal craniofacial features, microcephaly, intrauterine growth retardation, ichthyosis, flexion deformities, limb malformations, and edema of the hands and feet.[malacards.org]
Swelling of Hand
  • Group II: massive swelling of hand and feet, ichthyosis, undermineralized bones and Group III: hypoplastic digits, severe ichthyosis, short limbs and stick-like long bones.[ijpmonline.org]
Short Neck
  • neck, limb deformities, hypoplastic lungs, edema, and central nervous system anomalies.[malacards.org]
  • neck Intrauterine growth retardation Decreased fetal movement Rocker bottom foot ... ...[familydiagnosis.com]
  • neck, ichthyosis, subcutaneous swelling or syndactyly, less retardation of development of the brain, and less lethal than NLS), Bowen Hutterite syndrome (malformations and of the brain and spinal cord and do not have short neck, ichthyosis, subcutaneous[ijpmonline.org]
  • The clinical spectrum can be quite wide and includes: dermal / cutaneous severe skin restriction ichthyosis decreased fetal movement marked intrauterine growth restriction (IUGR) short neck central nervous system (CNS) anomalies microcephaly cerebellar[radiopaedia.org]


Staphylococcus Aureus
  • . / André, J. 2003 389 Frequency and Clinical Role of Staphylococcus aureus Overinfection in Atopic Dermatitis in Children Ricci, Giampaolo / Patrizi, Annalisa / Neri, Iria / Bendandi, Barbara / Masi, Massimo 2003 393 Contact Sensitization to Disperse[tib.eu]


  • Treatment Treatment Options: No treatment is available.[disorders.eyes.arizona.edu]
  • Make informed clinical choices for each patient, from diagnosis and treatment selection through post-treatment strategies and management of complications, with new evidence-based criteria throughout.[books.google.com]
  • […] time, but L-serine supplementation may prove to be an effective treatment in the future if the NLS is found early during a pregnancy. [3] [4] Last updated: 1/29/2017[rarediseases.info.nih.gov]


  • Treatment and prognosis The prognosis is very poor with most fetuses undergoing intrauterine death and the remainder not surviving the early neonatal period. Promoted articles (advertising)[radiopaedia.org]
  • Treatment [ edit ] Serine and glycine supplementation has shown tentative benefits in those with related serine biosynthesis defects and milder forms of NLS [6] Prognosis [ edit ] The prognosis is poor; affected individuals are either stillborn or die[en.wikipedia.org]


  • -ia) is a congenital disorder of a limb resulting from a disturbance in embryonic development . [1]Microcephaly is a descriptive term meaning a small head and is associated with numerous disorders of diverse etiology.[xaydungviet.info]
  • The important etiological associations of NIFH are listed in Table 1 (Moise, 2008). Table 1: Etiological associations of non-immune fetal hydrops. Etiology Proportion of cases I Cardiac anomalies i.[iamg.in]
  • A careful search for previously reported genetic causes of fetal hydrops indicated 64 different etiologies.[pediatrics.aappublications.org]
  • To this day the etiology and genetic basis remains unknown. Consanguinity has been reported. Some authors have postulated the syndrome to be a… CONTINUE READING From This Paper Figures, tables, and topics from this paper.[semanticscholar.org]


  • . / Frieden, Ilona J. 2003 207 Epidemiology of Childhood Vitiligo: A Study of 625 Patients from North India Handa, Sanjeev / Dogra, Sunil 2003 211 Two Girls with Necrobiosis Lipoidica and Type I Diabetes Mellitus with Transfollicular Elimination in One[tib.eu]
  • Please see the documentation for {{ columns-list }}. 3 Epidemiology and demographics At least 60% of the 4 million neonatal deaths that occur worldwide every year are associated with low birth weight (LBW), caused by intrauterine growth restriction (IUGR[wikidoc.org]
  • Al-Zayir, AA; Al-Amro Al-Alakloby, OM, Clinico-epidemiological features of primary hereditary ichthyoses in the Eastern province of Saudi Arabia, Int J Dermatol 45 ( 2006 ) 257 – 264. 37.[plasticsurgerykey.com]
Sex distribution
Age distribution


  • C: Sequence chromatogram of the GBA gene showing the homozygous pathogenic mutation. 3 Pathophysiology of non-immune fetal hydrops The basic pathophysiological mechanism of fetal hydrops is imbalance in the regulation of fluid between vascular and interstitial[iamg.in]
  • Risk Factors Family History of Ichthyosis or other Severe Skin disorders Consanguineous Couples; Marrying a blood relation Having another child with ichthyosis ( 25% risk of recurrence) Pathophysiology In Harlequin ichthyosis there is Mutations of ABCA12[impocity.blogspot.com]
  • Since most neurons are developed by the 18th week of gestation, the fetus with symmetrical IUGR is more likely to have permanent neurological sequela Pathophysiology If the cause of IUGR is extrinsic to the fetus (maternal or uteroplacental), transfer[wikidoc.org]
  • EMH was responsible for sections on pathophysiology and genetics. MC was responsible for sections on postnatal care and prognosis. The authors report no conflicts of interest in this work. 1. Kowalczyk B, Felus J.[dovepress.com]
  • Pons-Guiraud, A, Dry skin in dermatology: a complex pathophysiology, J Eur Acad Dermatol Venereol 21 ( Suppl 2 ) ( 2007 ) 1 – 4. 42.[plasticsurgerykey.com]


  • […] imperforate anus, and spinal defects] complex) Pentalogy of Cantrell Vesicoallantoic cyst Urachal cyst Diaphragmatic hernia (left sided) Normal variant Tracheoesophageal atresia or fistula/esophageal atresia Microgastria Central nervous system problems that prevent[obgyn.mhmedical.com]
  • Supportive measures include; Monitoring the patient in a Neonatal Intensive care unit, The use of Humidified incubator (to maintain body temperature and to prevent the skin from cracking).[impocity.blogspot.com]
  • How can Neu Laxova Syndrome be Prevented? Currently, Neu Laxova Syndrome may not be preventable, since it is a genetic disorder.[dovemed.com]
  • . / Krowchuk, Daniel / Feldman, Steven R. 2003 16 Skin Cancer Prevention Counseling and Clinical Practices of Pediatricians Gritz, Ellen R. / Tripp, Mary K. / De Moor, Carl A. / Eicher, Susan A. / Mueller, Nancy H. / Spedale, Jeanne H. 2003 25 Neu–Laxova[tib.eu]
  • […] microphthalmia syndrome * Mirhosseini-Holmes-Walton syndrome * Chromosome 6 ring syndrome * Toxoplasma, congenital * Nijmegen chromosome breakage syndrome * CAMFAK syndrome * Pitt-Rogers-Danks syndrome * Marden-Walker syndrome * Waardenburg syndrome type 3 Prevention[checkorphan.org]

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