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4,020 Possible Causes for 1st Metatarsal Absent, 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.[] Unilateral or bilateral coronal synostosis, low frontal hair line, strabismus, ptosis, and partial cutaneous syndactyly of fingers and toes are findings suggestive of the[] Supplementary skeleton anomalies consist of unusual vertebral shape, hyperlordosis or scoliosis and short stature.[]

  • 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[] syndactyly of fingers and toes; Brachymesophalangy of hands and feet; [Feet]; Broad great toe NEUROLOGIC: [Central nervous system]; Occasional mental retardation; Hydrocephalus[] Stature Syndrome, Brussels Type Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia[]

    Missing: 1st Metatarsal Absent
  • Laurence Moon Syndrome

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

    Missing: 1st Metatarsal Absent
  • Weismann Netter Syndrome

    […] in ambulation, or short stature.[] 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[] MalaCards based summary : Weismann-Netter Syndrome, also known as wns , is related to skeletal dysplasias and japanese encephalitis .[]

    Missing: 1st Metatarsal Absent
  • 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[] […] tarsal bones and partial cutaneous syndactyly.[] 2nd metacarpal ; Short humerus ; Short stature ; Shoulder dislocation ; Split hand ; Stenosis of the external auditory canal ; Ulnar bowing Associated Genes - Mouse Orthologs[]

    Missing: 1st Metatarsal Absent
  • 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[] syndactyly of fingers and toes.[] Saethre-Chotzen syndrome : These patients have short stature, brachycephaly, acrocephaly, plagiocephaly, facial asymmetry, hypertelorism, beaked nose, deafness, and cardiac[]

    Missing: 1st Metatarsal Absent
  • 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[] Moreover, second and third finger syndactyly of the right hand and bilateral two to four partial syndactyly of toes were present.[] Synopsis congenital diaphragmatic hernia (CDH) cognitive deficits cryptorchidism short stature Diamond-Blackfan anaemia (DBA) 15q25.2 target genes CPEB1, AP3B2 HOMER2 HDGFRP3[]

    Missing: 1st Metatarsal Absent
  • Aarskog-Scott Syndrome

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

    Missing: 1st Metatarsal Absent
  • Trichorhinophalangeal Syndrome

    Is short stature in TRPS I GH responsive?[] 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[] 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.[]

    Missing: 1st Metatarsal Absent
  • Otoonychoperoneal Syndrome

    Other features include dysmorphism, hypotonia, eye abnormalities, acquired microcephaly, hepatomegaly, and skeletal dysplasia.[] syndactyly of fingers and toes, brachydactyly of toes, valgus def[] stature, facial Multiple malformation syndrome, small stature, without skeletal dysplasia MVRCS association Nail-patella syndrome Nance-Horan syndrome Neu-Laxova syndrome[]

    Missing: 1st Metatarsal Absent

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