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792 Possible Causes for High Arched Palate, Speech Delay

  • Familial Hemophagocytic Lymphohistiocytosis

    Four patients have mild neurological deficits, including mild speech delay (3) and one patient who exhibited brainstem herniation on day 0, due to CNS HLH, has made a substantial[] Here we describe a case of familial hemophagocytic lymphohistiocytosis with distinct facial abnormalities including full cheeks, shallow orbits, and high arched palate, opisthotonus[]

  • Choanal Atresia

    In all of our patients, dysmorphic craniofacial features, microcephaly, thumb abnormalities, psychomotor and speech delay were described.[] Our patient has choanal atresia, hypertelorism, wide nasal bridge, high arched palate, discrete nipples, heart defects, myoclonic seizures and various dysmorphic findings.[] arched palate, micrognathia, and small tongue with no abnormalities of the extremities; and (D) seven additional individuals recorded in the DECIPHER 6.0 database who all[]

  • Cri Du Chat Syndrome

    Cri du chat syndrome is characterized by cat-like cry, facial dysmorphisms, microcephaly, speech delay, intellectual disability and slow growth rate, which are present with[] arched palate as individuals with 5p deletion get older change of phenotype is noted and it is less striking and harder to diagnose (face lengthens, face becomes "coarse"[] delay, facial dysmorphology, and level of mental retardation (MR).[]

  • Humero-Ulnar Synostosis

    In particular, speech delay was the dominant developmental problem in childhood. She was unable to speak until 4 years of age.[] Symptoms - Congenital heart disease radio ulnar synostosis mental retardation * Mental retardation * Heart disease * Short stature * Small head * High arched palate * Underdeveloped[] We present a case with bilateral congenital radio-ulnar synostosis, speech delay, dimple on shoulders, café au lait spot and characteristic facial appearance.[]

  • Blepharophimosis

    We report a child with a 785kb deletion of the 3p14.1p13 region including the genes FOXP1, EIF4E3, PROK2, GPR27 resulting in speech delay, contractures, hypertonia and blepharophimosis[] He also had a long philtrum and a narrow, high-arched palate. This case is very similar to the cases reported by Simosa et al. [1989: Am J Med Genet 32:184-186].[] High arched palate and lop ear deformity was seen in 2 cases. The ptosis was of quite severe degree in most of the cases and the L.P.S. action was poor.[]

  • Ring Chromosome 17

    In addition to psychomotor retardation, speech delay and seizure disorders, his abnormal phenotypic features included epicanthal folds, broad depressed nasal bridge, protruding[] , speech delay, good receptive language, mental retardation, facial dysmorphism q10 q11.2?[] arched or cleft palate, carp shaped mouth and small hands and feet.[]

  • Multiple Hamartoma Syndrome

    delay, may have seizures, mild hypertelorism.[] Presence of mucocutaneous lesions is the pathognomonic sign of this condition, giving the mucosa a "cobblestone appearance," along with carious lesions, high-arched palate[] palate.[]

  • Osteopathia Striata

    speech and language development Deficiency of speech development Delayed language development Delayed speech Delayed speech acquisition Delayed speech development Impaired[] arched palate, and wide spaced nipples.[] Female patients can also manifest ocular hypertelorism, downslanting palpebral fissures, broad and depressed nasal bridge, narrow high arched palate and low set dysplastic[]

  • Ring Chromosome 21

    Using conventional and molecular cytogenetics approaches we identified a de novo chromosome 21 sSRC in a child with speech delay and mild intellectual disability.[] The patient has some Down syndrome characteristics including a high arched palate, a secundum atrial septal defect, and duodenal stenosis, but lacks the typical Down syndrome[] Case 1 had severe myopia, hypotonia, joint hypermobility, speech delay, and dysmorphic features. aCGH detected a 1.275-Mb duplication of 21q22.12-q22.13 and a 6.731-Mb distal[]

  • EAST Syndrome

    speech and language development Deficiency of speech development Delayed language development Delayed speech Delayed speech acquisition Delayed speech development Impaired[] .  high arched palate,  Nystagmus.  optic nerve coloboma.  Cryptorchidism.  medullary stenosis of long bones.  intracranial calcifications  Cataract.  central hypoventilation[] On examination, the patient had facial dysmorphism in the form of microcephaly, deep set eyes, beaked nose, low set large floppy ears, high arched palate, long philtrum, thin[]

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