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2,054 Possible Causes for Short Stature - 5th-10th Percentile, Syndactyly

  • Aarskog-Scott Syndrome

    Undescended testis [ more ] 0000028 Downslanted palpebral fissures Downward slanting of the opening between the eyelids 0000494 External ear malformation 0008572 Finger syndactyly[] Weight was 10.10 kg (25th percentile), height 76 cm (10th percentile) and head circumference was 45.5 cm (5th percentile).[] Limbs brachyclinodactyly (80%) broad feet with bulbous toes (75%) simian crease (70%) syndactyly (60%) others: hyperextension of PIP joints & flexion of DIP joints 2.[]

  • Long QT Syndrome

    Timothy syndrome type 2 was originally reported to be associated with a more severe cardiac phenotype but without syndactyly.[] In 1995, a third type of LQTS was reported in to occur in association with bilateral syndactyly.[] […] paralysis), and characteristic facial and skeletal abnormalities such as a small lower jaw (micrognathia), low set ears, and fused or abnormally angled fingers and toes (syndactyly[]

    Missing: Short Stature - 5th-10th Percentile
  • Polydactyly

    What is syndactyly? Syndactyly is the webbing or fusing together of two or more fingers or toes.[] […] type III Variable cutaneous or osseous syndactyly of fingers 3 to 5 Syndactyly might be complete or partial, nails may be fused Condition is rare Syndactyly type IV (Haas[] Definition Polydactyly and syndactyly are congenital irregularities of the hands and feet.[]

    Missing: Short Stature - 5th-10th Percentile
  • Smith Lemli Opitz Syndrome

    At autopsy the infant had hydrops, unusual face, cleft palate, genital abnormalities, Dandy-Walker malformation, and absence of toe syndactyly.[] In this report we describe a male newborn with trisomy 13 who also has features of SLOS, such as 2/3 toe syndactyly and a shawl-like scrotum.[] He had microcephaly, ambiguous genitalia, cleft palate, syndactyly of toes, patent ductus arteriosus and hypertrophic pyloric stenosis.[]

    Missing: Short Stature - 5th-10th Percentile
  • Kallmann Syndrome

    BACKGROUND: Kallmann syndrome (KS) is a rare genetic disorder characterised by central hypogonadism with a lack of sense of smell and in some cases renal aplasia, deafness, syndactyly[] Only syndactyly, polydactyly, or camptodactyly were exclusively seen in the FGFR1/FGF8 group (and none of the other groups, including the RSV-negative group).[] Kallmann syndrome 1 ( KAL1 , which encodes anosmin) mutations; hearing loss is linked to chromodomain helicase DNA-binding protein 7 ( CHD7 ) mutations; and dental agenesis and syndactyly[]

    Missing: Short Stature - 5th-10th Percentile
  • Pierre Robin Syndrome

    Abstract In reviewing eight cases of children with the Pierre Robin syndrome, we found three cases to have abnormalities of the extremities such as syndactyly, hypoplastic[] Abnormalities like syndactyly, dysplastic phalanges, polydactyly, and clinodactyly are seen in many.[] They include syndactyly, dysplastic phalanges, polydactyly, clinodactyly, hyperextensible joints, and oligodactyly in the upper limbs.[]

    Missing: Short Stature - 5th-10th Percentile
  • Fraser Syndrome

    Detailed postmortem findings from 11 cases of probable Fraser (cryptophthalmos-syndactyly) syndrome are reported.[] From Wikidata Jump to navigation Jump to search Fraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos and syndactyly cryptophthalmos[] Abstract Fraser syndrome (cryptophthalmos-syndactyly syndrome) is an autosomal recessive multiple malformation syndrome whose major manifestations are cryptophthalmos, syndactyly[]

    Missing: Short Stature - 5th-10th Percentile
  • Saethre-Chotzen Syndrome

    Saethre-Chotzen syndrome (SCS) is a type of acro-cephalo-syndactyly (ACS) syndrome, characterized by premature fusion of the coronal sutures, facial dysmorphism, syndactyly[] […] of toes 2 and 3, and partial soft tissue syndactyly of toes 4 and 5 consistent with the diagnosis of Saethre-Chotzen syndrome.[] Abstract Saethre-Chotzen syndrome (acrocephalo-syndactyly type III, ACS III) is an autosomal dominant craniosynostosis with brachydactyly, soft tissue syndactyly and facial[]

    Missing: Short Stature - 5th-10th Percentile
  • Poland Syndrome

    Unilateral defect of pectoral muscle and ipsilateral syndactyly constitute Poland syndrome.[] Poland anomaly Poland sequence Poland syndactyly Poland's anomaly Poland's syndrome unilateral defect of pectoralis major and syndactyly of the hand Baban A, Torre M, Bianca[] Poland syndrome is characterized by unilateral aplasia or hypoplasia of the sternocostal portion of the pectoralis major muscle and ipsilateral syndactyly.[]

    Missing: Short Stature - 5th-10th Percentile
  • Klippel-Trenaunay-Weber Syndrome

    The patient had the characteristic manifestations of KTW syndrome, including numerous cutaneous angiomas and cavernomas, limb hypertrophy and syndactyly, and limb venous malformations[] There may be associated skeletal abnormalities including macrodactyly and syndactyly.[] See Syndactyly . Klippel, Maurice, French neurologist, 1858-1942.[]

    Missing: Short Stature - 5th-10th Percentile

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