has material basis in germline mutation in disease has feature SPINK5 Abnormal eyelash morphology Abnormal eyebrow morphology syndromic disease eye disorder autosomal recessive disease Netherton syndrome https://rarediseases.info.nih.gov/diseases/7182/netherton-syndrome https://www.malacards.org/card/netherton_syndrome icd11.foundation:1797493665 NANDO:1200338 NCIT:C84922 erythroderma, ichthyosiform, with hypotrichosis and hyper-IgE DOID:0050474 Netherton disease UMLS:C5574950 Netherton syndrome Comèl-Netherton syndrome MedDRA:10062909 MESH:D056770 NORD:1290 MEDGEN:1802991 Comel-Netherton syndrome Ichthyosis, Netherton Syndrome SCTID:312514006 bamboo hair syndrome Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations. GARD:0007182 NS NANDO:1200619 OMIM:256500 NANDO:2200993 neth MONDO:0009735 Orphanet:634 inherited ichthyosis hyper-IgE syndrome obsolete eyebrow/eyelashes structural anomaly