Disease #00401 (NLS1 (Neu-Laxova syndrome (NLS)), OMIM:256520)

Official abbreviation NLS1
Name Neu-Laxova syndrome (NLS)
OMIM ID 256520
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 7
Phenotype entries for this disease 8
Associated with 1 gene PHGDH
Associated tissues -
Disease features -
Remarks -
Date created 2014-06-06 10:12:33 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

7 entries on 1 page. Showing entries 1 - 7.
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00016941 - PubMed: Shaheen 2014 2-generation family, 2 affected/2 spontaneous abortions, unaffected heterozygous carrier parents, sister died immediately after birth F yes Saudi Arabia Saudi 00y00m00d - - - NLS1 born vaginally, died immediately after birth, very small for gestational age and had severe microcephaly (records of actual growth parameters at birth could not be retrieved), micrognathia, bulging eyes with absent eyelids, severe ichthyosis of the skin, cleft lip and palate on the right side, a very flat nose, a very short neck, and generalized edema. Also had extremely abnormal limbs with hypoplastic forearms and no discernible digits in the upper or lower limbs. PHGDH PHGDH 1 2 Marianne Vos (LOVD-team)
00016942 - PubMed: Shaheen 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents ? yes Saudi Arabia Saudi 00y00m00d - - - NLS1 born preterm 29w after an uneventful vaginal delivery. Antenatal ultrasounds at both 19 and 24w of gestation showed polyhydramnios, curved vertebrae, protruded eyes, an open mouth, low-set ears, a short and broad neck, microcephaly, generalized skin edema (especially of the trunk and scalp), abnormally flexed hands, extended crossed feet with a rocker-bottom appearance, and fetal akinesia. Postnatal screening for congenital infection was inconclusive. Postnatal examination revealed massive body swelling and marked disfigurement of the face and limbs, which appeared engulfed by a thin and shiny membrane (Figure S1B). The eyes were small, fixed, and widely spaced and showed supraorbital massive cystic swelling bilaterally. The nose was completely flat and obliterated, and the mouth was large and fixed open with massively swollen lips. The neck was extremely short. The ear lobules were edematous with tight overlying skin. The trunk was short and shiny with visible veins. The baby exhibited a fixed-flexion appearance with generalized contractures. The massively edematous hands and feet had no discernible digits. A skeletal survey showed defaced and overlapping cranial bones with severe softtissue edema. Thoracic, vertebral, pelvic, and other tubular bones had no major skeletal defects PHGDH PHGDH 1 1 Marianne Vos (LOVD-team)
00016943 - PubMed: Shaheen 2014 2-generation family, 1 affected, unaffected parents M yes Saudi Arabia Saudi 00y01m - - - NLS1 delivered vaginally at term with thick meconium-stained liquor. Birth weight was 2.24 kg. The baby was evidently jaundiced with generalized colloidonlike ichthyosis. He was microcephalic (head circumferenceof 27.5 cm) with a sloping forehead, a broad nose, large ears, a short neck, spastic long fingers, and fixed contractures of the extremities. He succumbed to pneumonia and pseudomonas sepsis and died at 1 month of age. PHGDH PHGDH 1 1 Marianne Vos (LOVD-team)
00295965 3 - - F no Australia - 00y01m01d00h - - - NLS1 HP:0000340, HP:0000470, HP:0000369, HP:0000347, HP:0001511, HP:0000252, HP:0001838, HP:0008064 PHGDH PHGDH 1 1 Fatima Abdelfattah
00295966 - - - M yes Iran - - - - - NLS1 HP:0001371, HP:0001511, HP:0000340, HP:0000470, HP:0000377, HP:0012472, HP:0000347, HP:0000520, HP:0000252, HP:0001339, HP:0001321, HP:0006101, HP:0001838, HP:0002650, HP:0008064, HP:0002089, HP:0001770, HP:0003241 PHGDH PHGDH 1 1 Fatima Abdelfattah
00299923 - - - F no France white 00y00m00d00h - - - NLS1 HP:0001511, HP:0000340, HP:0000470, HP:0000377, HP:0000369, HP:0000153, HP:0012472, HP:0000218, HP:0000347,HP:0003196, HP:0000463, HP:0007651,HP:0000518, HP:0000252, HP:0001339, HP:0001321, HP:00012714, HP:0000238, HP:0002514, HP:0001371, HP:0001762, HP:0005684, HP:0010557,HP:0008064,HP:0003241 PHGDH PHGDH 1 1 Fatima Abdelfattah
00300227 - - - F ? Canada pakistan 00y00m00d23h - - - NLS1 HP:0002126, HP:0001562, HP:0001558, HP:0001511, HP:0000340, HP:0000470, HP:0000377, HP:0000369, HP:0000153, HP:0000347, HP:0000316, HP: 0000445, HP:0008551, HP:0000520, HP:0000518, HP:0000252, HP:0001339, HP:0001321, HP:00012714, HP:0002119, HP:0001371, HP:0001838, HP:0000954, HP:0008064, HP:0000951, HP:0001196, HP:0002514, HP:0002089, HP:0003241 PHGDH PHGDH 1 1 Fatima Abdelfattah
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