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46 Possible Causes for Brushfield Spot, Delayed Speech Development, Short Broad Feet

  • Down Syndrome

    Brushfield's spots: Speckled iris. Little white spots that slightly elevated on the surface of the iris arranged in a ring concentric with the pupil.[] Short little finger. In-curved little finger. Short broad hands. Feet: Gap between hallux and second toes. Congenital heart defects. Duodenal atresia.[] , particularly those with the greatest delays in speech and language development.[]

  • SHORT Syndrome

    […] and broad hands, short fifth fingers with clinodactyly, and a shawl scrotum.[] […] on the colored part of the eye (Brushfield spots) Physical development is often slower than normal.[] We describe a boy with the manifestations of the SHORT syndrome: lipoatrophy, delayed speech development, minor facial anomalies, clinodactyly, and short stature.[]

  • Absent Thumb - Short Stature - Immunodeficiency Syndrome

    spots Term Definition AD, TSC1/2 gene ash-leaf/hypopigmented macules, shagreen patch, facial angioma/adeoma sebaceum, ungual fibromas, seizures/infantile spasms, cardiac[] […] nose, narrow nares, large lips, short neck, widely spaced nipples, puffy hand and feet, dark pigmented naevi, caf -au-lait spots, microcephaly, growth delay, speech delay[] speech and language development Peripheral neuropathy Cataract Ataxia Myeloid leukemia Facial telangiectasia in butterfly midface distribution Neoplasm of the gastrointestinal[]

  • Smith-Magenis Syndrome

    Both conditions share brachycephaly, upward slanting palpebral fissures, a short and broad nose, a round face with midface flattening, iris hamartomas (Brushfield spots in[] development Language development deficit Language delayed Language delay Impaired speech development Impaired speech and language development Delayed speech development Delayed[] Other signs and symptoms of SMS include the following: Signs of Smith-Magenis syndrome Intellectual disability Delayed speech development Hoarse voice Daytime drowsiness and[]

  • Autosomal Dominant Mental Retardation Type 21

    ) spots overlying the iris of the eye.[] Phenotype Form of skeletal dysplasia characterized by brachydactyly, short stature, obesity, facial dysostosis (broad face, widely spaced eyes, maxillo-nasal hypoplasia),[] 7 years, although some may have prior delayed development.[]

  • Bardet-Biedl Syndrome Type 11

    ) spots overlying the iris of the eye.[] Short, broad, stubby fingers and toes were reported in 51 patients (46%).[] development Speech problems Poor coordination, clumsiness Type 2 diabetes Difficulty controlling muscles (ataxia) Diagnosis Diagnosis of Bardet-Biedl syndrome is based on[]

  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

    Brushfield spots (gray to white spots resembling grains of salt around the periphery of the iris) may be visible.[] […] lip vermilion Narrow mouth Delayed speech and language development Cryptorchidism Hypertelorism Tricuspid regurgitation Rare Symptoms - Less than 30% cases Brachydactyly[] The pupils may have light smudgy opaque Brushfield spots.[]

  • Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome

    The pupils may have light smudgy opaque Brushfield spots.[] […] hands with broad thin fingers and elongated thumbs, a mild talipes calcaneovalgus deformity of the feet, small VSD, psychomotor retardation p15 489013, 3874588, 4043965,[] speech and language development and Limitation of joint mobility, related diseases and genetic alterations[]

  • Monosomy 21q

    Similarly, other signs not present in TY and LI but present in AL, such as Brushfield spots, abnormal teeth, joint hyperlaxity, and ventricular septal defect (table 17, are[] The patient may have an extremely prominent forehead (frontal bossing), enlargement of the back part of the head, low placement of ears, short broad hands and feet, unusually[] speech and language development chr21:21062316-24943120 3.88 16 (1) Maternal Unknown Case 2 (Petit et al., 2015) [ 24 ] Decipher#254181 9 Global developmental delay, speech[]

  • Drayer Syndrome

    Spots) • Varying Degrees of Mental and Growth Retardation • Dysplasia of the Pelvis • Short Broad Hands, Hypoplasia of Middle Phalanx of 5 Th Finger, Simian Crease • High[] […] stature Head And Neck Eyes: strabismus blepharophimosis Skeletal Feet: talipes equinovarus brachydactyly absence or hypoplastic middle phalanges Head And Neck Nose: broad[] Birth weight 1940g (60th centile), length 44cm (50th centile), head circumference 31.2cm (above 60th centile); dysmorphic features: short palpebral fissures, broad and flat[]

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