Particular attention is drawn to cutaneous markers of non‐cutaneous defects, such as spinal dysraphism, and those such as aplasia cutis and vascular naevi which may be the presenting sign of a syndrome. [onlinelibrary.wiley.com]

GENES CYP2C9 - CYP2C19 DETOXIFICACIÓN Detecta 7 polimorfismos presentes en 6 genes relacionados con activación de procarcinógenos, excreción de xenobióticos y estrés oxidativo. [pdfslide.es]

• Anemia

  DE BLACKFAN-DIAMOND RPL11 ANEMIA DE BLACKFAN-DIAMOND RPL35A ANEMIA DE BLACKFAN-DIAMOND RPL5 ANEMIA DE BLACKFAN-DIAMOND RPS10 ANEMIA DE BLACKFAN-DIAMOND RPS17 ANEMIA DE BLACKFAN-DIAMOND RPS19 ANEMIA DE BLACKFAN-DIAMOND RPS24 ANEMIA DE BLACKFAN-DIAMOND [pdfslide.es]

  Dyserythropoietic, Congenital, see Congenital dyserythropoietic anemia Anemia, hereditary sideroblastic, see X-linked sideroblastic anemia anemia, hypochromic microcytic, with defect in iron metabolism, see Iron-refractory iron deficiency anemia Anemia [ghr.nlm.nih.gov]

  […] disease, axonal, type 2W, 616625 HARS Usher syndrome type 3B, 614504 HCCS Linear skin defects with multiple congenital anomalies 1 309801 HGSNAT Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 HGSNAT Retinitis pigmentosa 73 616544 HK1 Hemolytic anemia [qgenomics.com]

• Epilepsy

  […] spectrum disorder, see ADNP syndrome ADOA, see Optic atrophy type 1 Adolescent idiopathic scoliosis adolescent myoclonic epilepsy, see Juvenile myoclonic epilepsy ADPEAF, see Autosomal dominant partial epilepsy with auditory features adrenal Cushing [ghr.nlm.nih.gov]

  Ceroid lipofuscinosis, neuronal, 5 256731 CLN6 Ceroid lipofuscinosis, neuronal, 6 601780 CLN6 Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300 CLN8 Ceroid lipofuscinosis, neuronal, 8 600143 CLN8 Ceroid lipofuscinosis, neuronal, 8 Northern epilepsy [qgenomics.com]

• Fever

  Bardet-Biedl syndrome 11 615988 TRNT1 Retinitis pigmentosa and erythrocytic microcytosis, 616959 TRNT1 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084 TRPM1 Night blindness, congenital stationary (complete [qgenomics.com]

  […] craniometaphyseal dysplasia, see Craniometaphyseal dysplasia autosomal dominant familial hematuria, retinal arteriolar tortuosity, contractures, see Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome autosomal dominant familial periodic fever [ghr.nlm.nih.gov]

• Familial Adenomatous Polyposis

  […] endocrine, see Multiple endocrine neoplasia adenomatous familial polyposis, see Familial adenomatous polyposis adenomatous familial polyposis syndrome, see Familial adenomatous polyposis adenomatous polyposis coli, see Familial adenomatous polyposis [ghr.nlm.nih.gov]

• Trismus

  TROMBOFILIA HEREDITARIA F2 TROMBOFILIA HEREDITARIA F5 TROMBOFILIA HEREDITARIA MTHFR ELN E N FBN2 ARTROGRIPOSIS DISTAL TIPO 2A (SÍNDROME DE FREEMAN-SHELDON) MYH3 ARTROGRIPOSIS DISTAL TIPO 2B (SÍNDROME DE SHELDON-HALL) TNNI2 ARTROGRIPOSIS DISTAL TIPO 7 (TRISMUS [pdfslide.es]

• Spastic Paraplegia

  see Spastic paraplegia type 11 autosomal recessive spastic paraplegia type 49, see Spastic paraplegia type 49 autosomal recessive spastic paraplegia with mental impairment and thin corpus callosum, see Spastic paraplegia type 11 autosomal recessive [ghr.nlm.nih.gov]

Treatment options include therapy to help with development and communication. If your child has been diagnosed with Wolf-Hirschhorn syndrome, talk with their doctor about all current treatment options. [diseaseinfosearch.org]