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136 Possible Causes for Partial Syndactyly of Fingers and Toes, Short Stature

  • Saethre-Chotzen Syndrome

    Its phenotype includes uni- or bicoronal synostosis, short stature, facial dysmorphism and variable anomalies of the hands and feet.[ncbi.nlm.nih.gov] Unilateral or bilateral coronal synostosis, low frontal hair line, strabismus, ptosis, and partial cutaneous syndactyly of fingers and toes are findings suggestive of the[ncbi.nlm.nih.gov] Supplementary skeleton anomalies consist of unusual vertebral shape, hyperlordosis or scoliosis and short stature.[symptoma.com]

  • Autosomal Dominant Mental Retardation Type 21

    short stature ( Q77.4 ) hypochondroplastic short stature ( Q77.4 ) nutritional short stature ( E45 ) pituitary short stature ( E23.0 ) progeria ( E34.8 ) renal short stature[icd10data.com] syndactyly of fingers and toes; Brachymesophalangy of hands and feet; [Feet]; Broad great toe NEUROLOGIC: [Central nervous system]; Occasional mental retardation; Hydrocephalus[genome.jp] Stature Syndrome, Brussels Type Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia[rgd.mcw.edu]

  • Laurence Moon Syndrome

    Endocrinology advice regarding short stature and hypogonadism. Growth hormone treatment may be useful. Speech therapy. Renal opinion.[patient.info] Nine patients (8%) showed syndactyly; this was usually partial, most commonly involving the second and third toes.[jmg.bmj.com] Serum laboratory analysis is directed towards the detection of hypopituitarism in infants or children with evident clinical indications, such as short stature and hypoplastic[symptoma.com]

  • Weismann Netter Syndrome

    […] in ambulation, or short stature.[mafiadoc.com] syndactyly of fingers and toes, brachydactyly of toes, valgus deformity of hypertrophied triangular great toes, broad phalanges of the great toes and broad first metatarsals[zdoc.site] MalaCards based summary : Weismann-Netter Syndrome, also known as wns , is related to skeletal dysplasias and japanese encephalitis .[malacards.org]

  • Facioauriculoradial Dysplasia

    2nd metacarpal 59 32 hallmark (90%) Very frequent (99-80%) HP:0010038 22 malar flattening 32 HP:0000272 23 short stature 32 HP:0004322 24 downslanted palpebral fissures 32[malacards.org] […] tarsal bones and partial cutaneous syndactyly.[mendelian.co] 2nd metacarpal ; Short humerus ; Short stature ; Shoulder dislocation ; Split hand ; Stenosis of the external auditory canal ; Ulnar bowing Associated Genes - Mouse Orthologs[mousephenotype.org]

  • Chromosome 19q13.11 Deletion Syndrome

    […] nose Decreased length of nose Shortened nose [ more ] 0003196 Short palpebral fissure Short opening between the eyelids 0012745 Short philtrum 0000322 Short stature Decreased[rarediseases.info.nih.gov] Moreover, second and third finger syndactyly of the right hand and bilateral two to four partial syndactyly of toes were present.[nature.com] Synopsis congenital diaphragmatic hernia (CDH) cognitive deficits cryptorchidism short stature Diamond-Blackfan anaemia (DBA) 15q25.2 target genes CPEB1, AP3B2 HOMER2 HDGFRP3[humpath.com]

  • Patel-Bixler Syndrome

    She had short stature, mental retardation, triangular faces, prominent eyes, low set ears, short neck, brachydactyly, and cyanotic heart disease Carpenter syndrome : There[ncbi.nlm.nih.gov] syndactyly of fingers and toes.[ncbi.nlm.nih.gov] Saethre-Chotzen syndrome : These patients have short stature, brachycephaly, acrocephaly, plagiocephaly, facial asymmetry, hypertelorism, beaked nose, deafness, and cardiac[ncbi.nlm.nih.gov]

  • Aarskog-Scott Syndrome

    At the age of 1.3 years, the child presented an unusual facial appearance and short stature.[doi.org] Pectus carinatum with excavatum was noticed, along with brachydactyly, bilateral fifth finger clinodactyly, bilateral partial syndactyly of the second and third toes, interdigital[bmcpediatr.biomedcentral.com] The Aarskog syndrome is characterized by short stature with typical facial, digital, and genital anomalies.[ncbi.nlm.nih.gov]

  • Trichorhinophalangeal Syndrome

    Is short stature in TRPS I GH responsive?[ijpeonline.biomedcentral.com] She showed also a brachydactyly with clinodactyly, deviation of the middle fingers on both hands, and partial syndactyly of the second and third toes on both feet (Fig. 3b[bmcmedgenet.biomedcentral.com] A 32-year-old short statured woman with alopecia, typical facies, shortened angulated fingers and toes with Trichorhinophalangeal syndrome type I (TRPS I) is reported.[ncbi.nlm.nih.gov]

  • Cole-Carpenter Syndrome

    The skull is poorly ossified and frequent diaphyseal fractures of the long bones occur leading to motor delays and short stature. Rib fractures are sometimes seen.[disorders.eyes.arizona.edu] […] and toes (brachydactyly); partial fusion of the soft tissues (cutaneous syndactyly) between certain digits; and the presence of extra (supernumerary) toes or, less commonly[rarediseases.org] stature Decreased body height Small stature [ more ] 0004322 Skeletal dysplasia 0002652 30%-79% of people have these symptoms Abnormality of dental enamel Abnormal tooth[rarediseases.info.nih.gov]

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