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108 Possible Causes for Homozygous Polydactyly

  • Pelger-Huet Anomaly

    Homozygous individuals inconsistently have skeletal anomalies such as post-axial polydactyly, short metacarpals, short upper limbs, short stature, or hyperkyphosis.Identifying[]

  • Polyarthritis

    In NBS, congenital osteoarticular malformations such as clinodactyly, polydactyly or syndactyly are the most common occuring in one-half of the patients.[] Albeit NBS has been reported in different ethnic groups, more than 90% of affected persons are of Slavic origin (Central-East Europe) and they carry homozygous founder mutation[]

  • Retinitis Pigmentosa

    The two siblings showed signs of RP and polydactyly.[] NGS identified a homozygous c.1184A G mutation in the MKKS/BBS6 gene in both patients resulting in a p.H395R substitution in the MKKS/BBS6 protein.[]

  • Early Infantile Epileptic Encephalopathy Type 2

    , and they alone had polydactyly.[] Although homozygous female and hemizygous male mice showed comparable perinatal lethality due to major skeletal abnormalities, heterozygous females were even more affected[]

  • Polydactyly

    In a mating Pp x Pp (heterozygous parents) on average 25 % of the young will be homozygous for polydactyly, 50 % heterozygous for polydactyly and 25 % normal-footed.[] A homozygous 5 bp deletion (NM_020347.2:c.402-406del, p.Pro136ThrfsX5) in LZTFL1 was identified.[] Here, we report homozygous mutations of KIAA0586 in four families affected by lethal ciliopathies ranging from a hydrolethalus phenotype to short-rib polydactyly.[]

  • Skeletal Dysplasia

    Conditions include: Usually fatal: achondrogenesis, thanatophoric dysplasia, short rib polydactyly (Majewski and Saldino-Noonan type), homozygous achondroplasia, osteopetrosis[] […] subdivided in order to simplify the diagnostic approach [ 26 , 27 ]: Depending on the neonatal lethality: Usually fatal Achondrogenesis Thanatophoric dysplasia Short rib polydactyly[] Homozygous achondroplasia Camptomelic dysplasia Dyssegmental dysplasia, Silverman-Handmaker type Osteogenesis imperfecta, type II Hypophosphatasia (congenital form) Chondrodysplasia[]

  • Autosomal Recessive Deafness 42

    Molecular genetics analysis showed segregation of homozygous nonsense and frameshift mutations in the genes EVC2 and COL11A2, respectively.[] […] analysis ensued in a proband with consanguineous parents of Iranian descent who presented with atypical suspected Ellis-van Creveld syndrome that included short stature, polydactyly[]

  • Meckel Syndrome Type 7

    Post-termination examination showed anencephaly, occipital encephalocele, postaxial polydactyly, cleft lip and palate, microphthalmia, cystic kidney disease, and hepatic bile[] ARG132TER In 2 presumably related Moroccan fetuses diagnosed with Meckel syndrome (MKS5; 611561 ) at 15 to 16 weeks' gestation by ultrasound, Delous et al. (2007) identified a homozygous[]

  • Hereditary Neutrophilia

    Homozygous individuals inconsistently have skeletal anomalies such as post-axial polydactyly , short metacarpals , short upper limbs, short stature, or hyperkyphosis . [ citation[]

  • Frontonasal Dysplasia

    Female mice heterozygous for a loss-of-function allele ( Efnb1 / ) exhibit polydactyly, a phenotype not observed in either hemizygous male ( Efnb1 ) or homozygous female ([]

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