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505 Possible Causes for Midline Defects, Skeletal Dysplasia

  • Septo-Optic Dysplasia

    Septo-optic dysplasia, a variable combination of abnormalities of cerebral midline structures, is a clinically heterogeneous syndrome in which the midline defects may be implicated[] His birth and postnatal growth history, developmental retardation, physical examination and skeletal radiograms suggested Sotos syndrome.[] It may also be accompanied by other malformations, including multiple facial dysmorphism, midline defects, cleft lip and palate, musculoskeletal and other non-neurological[]

  • Wolf Hirschhorn Syndrome

    Characteristics include marked prenatal and postnatal growth retardation with psychomotor delay, profound mental deficiency, distinctive facies, and midline defects.[] There are some skeletal features like kyphosis, scoliosis, hemi vertebrae, dysplasia or displacement of the hip, abnormal implantations of hallux and thumb.[] Wolf-Hirschhorn syndrome (WHS) is a well-known genetic condition characterized by typical facial anomalies, midline defects, skeletal anomalies, prenatal and postnatal growth[]

  • Growth Hormone Deficiency

    Neonates who have congenital defects of the pituitary or hypothalamus may have hypoglycemia (which also can occur in older children), midline defects (eg, cleft palate), or[] dysplasia.[] Congenital GHD results from genetic error, and may be associated with brain structure defects or with midline facial defects such as a cleft palate or single central incisor[]

  • Pituitary Dwarfism

    The most common types of dwarfism, known as skeletal dysplasias, are genetic.[] It is also sometimes seen in children with midline defects such as cleft palate.[] It is characterized by congenital hypogonadotropic hypogonadism and anosmia, possibly with additional midline defects.[]

  • Cleidocranial Dysplasia

    Cleidocranial dysostosis (CCD) is a rare skeletal dysplasia with predominantly membranous bone involvement. It carries an autosomal dominant inheritance 4.[] Holoprosencephaly (HPE) is a genetically heterogeneous developmental field defect in which midline cleavage of the forebrain and craniofacial structures is impaired.[] Cleidocranial dysplasia (CCD) is an autosomal dominant disorder that presents with skeletal dysplasia.[]

  • Osteogenesis Imperfecta

    When a skeletal dysplasia is detected during the antenatal period, especially early in the pregnancy, it can be associated with a poor prognosis.[] More than 40 candidate genes for PSIS, PHD, and HPE have been reported ( 17 – 20 ), but only 5% of the PSIS patients were identified to harbor these defects ( 20, 21 ).[] Osteogenesis imperfecta is a genetically and clinically heterogenous group of skeletal dysplasias characterized by bone fragility.[]

  • Trisomy 18

    Craniofacial malformations are common congenital defects caused by failed midline inductive signals.[] Twin 1 showed subcutaneous edema, pleural effusion, and mesomelic limb shortening, suggestive of lethal skeletal dysplasia (Roberts syndrome).[] The major midline dysmorphic features of trisomy 13 are due to a defect in the fusion of the midline prechordial mesoderm in the first three weeks of gestation.[]

  • Smith Lemli Opitz Syndrome

    They all had electrolyte abnormalities (hyperkalemia, hyponatremia, hypocalcemia), necrotizing enterocolitis, sepsis-like episodes and midline defects including the branchial[] […] sequence Celosomial monster Cerebro-costo-mandibular syndrome Cerebrofacial dysplasia Cerebro-oculo-facio-skeletal syndrome Charge association Charge syndrome Child syndrome[] Despite these defects in central nervous system development, brain tumor formation has only rarely been reported in association with SLOS.[]

  • Mononen-Karnes-Senac Syndrome

    Homepage Rare diseases Search Search for a rare disease Mononen-Karnes-Senac syndrome Disease definition Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia[] […] type Midline defects recessive type Midline developmental field defects Mievis Verellen Dumoulin syndrome Milner Khallouf Gibson syndrome Minkowski-Chauffard disease Minoxidil[] New skeletal dysplasia with unique brachydactyly. Am. J. Med. Genet. 42: 706-713, 1992. [PubMed: 1632443] [Full Text: ] Creation Date: Victor A.[]

  • Crouzon Syndrome

    Dysplasia Society, Southeastern Regional Genetics Group Disclosure: Nothing to disclose.[] […] sections closer to the midline. ( C ) Higher magnification of the calvaria at Day 0 (d0) and Day 14 (d14) in Fgfr3 Y367C/ mice.[] […] type, a distinct skeletal disorder, has deficient canonical FGF signaling.[]

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