Create issue ticket

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.[medterms.com] Short little finger. In-curved little finger. Short broad hands. Feet: Gap between hallux and second toes. Congenital heart defects. Duodenal atresia.[patient.info] , particularly those with the greatest delays in speech and language development.[dseinternational.org]

  • SHORT Syndrome

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

  • 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[flashcardmachine.com] […] 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[chr7.org] speech and language development Peripheral neuropathy Cataract Ataxia Myeloid leukemia Facial telangiectasia in butterfly midface distribution Neoplasm of the gastrointestinal[mendelian.co]

  • 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[jmg.bmj.com] development Language development deficit Language delayed Language delay Impaired speech development Impaired speech and language development Delayed speech development Delayed[rarediseases.info.nih.gov] Other signs and symptoms of SMS include the following: Signs of Smith-Magenis syndrome Intellectual disability Delayed speech development Hoarse voice Daytime drowsiness and[forgottendiseases.org]

  • Autosomal Dominant Mental Retardation Type 21

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

  • Bardet-Biedl Syndrome Type 11

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

  • 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.[merckmanuals.com] […] lip vermilion Narrow mouth Delayed speech and language development Cryptorchidism Hypertelorism Tricuspid regurgitation Rare Symptoms - Less than 30% cases Brachydactyly[mendelian.co] The pupils may have light smudgy opaque Brushfield spots.[hawaii.edu]

  • Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome

    The pupils may have light smudgy opaque Brushfield spots.[hawaii.edu] […] hands with broad thin fingers and elongated thumbs, a mild talipes calcaneovalgus deformity of the feet, small VSD, psychomotor retardation p15 489013, 3874588, 4043965,[chr7.org] speech and language development and Limitation of joint mobility, related diseases and genetic alterations[mendelian.co]

  • 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[publications.fondationlejeune.org] 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[rarediseases.org] 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[molecularcytogenetics.biomedcentral.com]

  • 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[quizlet.com] […] stature Head And Neck Eyes: strabismus blepharophimosis Skeletal Feet: talipes equinovarus brachydactyly absence or hypoplastic middle phalanges Head And Neck Nose: broad[malacards.org] Birth weight 1940g (60th centile), length 44cm (50th centile), head circumference 31.2cm (above 60th centile); dysmorphic features: short palpebral fissures, broad and flat[ssmc-tl.com]

Similar symptoms