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833 Possible Causes for Delayed Speech and Language Development, Open Metopic Suture, Overfolded Superior Helix

  • Pallister W Syndrome

    superior helix and small anthelix, sometimes cupped, with preauricular tags (fig 1 ).[jmg.bmj.com] The symptoms usually include microbrachycephaly, synostosis involving chiefly the cranial suture, open sagittal and lamdoid sutures, patent metopic suture, hypertelorism,[whonamedit.com] […] also been a term used to describe this condition. 10 Clinical features EAR ANOMALIES/HEARING LOSS External auricular anomalies in TBS typically include small ears with an overfolded[jmg.bmj.com]

  • FGFR2-Related Bent Bone Dysplasia

    NIH Rare Diseases : 53 Bent bone dysplasia syndromeis an often lethal skeletal disorder characterized by poor mineralization of the skull (calvarium), craniosynostosis, underdeveloped (hypoplastic) pubic bone (pubis) and clavicles, osteopenia, and bent long bones. Unusual facial features include low-set ears, widely[…][malacards.org]

    Missing: Delayed Speech and Language Development
  • Kleiner Holmes Syndrome

    superior helix; Deficient auricle; Hypertelorism; Megalophthalmos; Gingival hyperplasia; Prenatal teeth; Bell-shaped thorax; Hypoplastic clavicles; Decreased mineralization[panelapp.genomicsengland.co.uk] speech and language development Esophageal carcinoma Clinodactyly of the 5th toe Abnormality of the voice Chest pain Cough Nausea and vomiting Lymphadenopathy Kyphoscoliosis[mendelian.co] metopic suture; Midface hypoplasia; Micrognathia; Low-set ears; Overfolded superior helix; Deficient auricle; Hypertelorism; Megalophthalmos; Gingival hyperplasia; Prenatal[panelapp.genomicsengland.co.uk]

  • Kaufman Oculocerebrofacial Syndrome

    Symptoms INHERITANCE: Autosomal dominant HEAD AND NECK: [Head]; Open metopic suture; [Face]; Midface hypoplasia; Micrognathia; [Ears]; Low-set ears; Overfolded superior helix[findzebra.com] speech and language development Intellectual disability, progressive Chorioretinal dysplasia Bull's eye maculopathy Macrodontia of permanent maxillary central incisor Respiratory[mendelian.co] , Delayed psychomotor development [more] A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech[rarediseases.oscar.ncsu.edu]

  • Propionic Acidemia

    There was mild plagiocephaly and overfolding of the superior helix of each ear. The lower lip had loss of tissue in 2 lateral clefts with bulbous tissue in the center.[jamanetwork.com]

    Missing: Open Metopic Suture
  • Cleidocranial Dysplasia

    Speech and language may also need to be assessed by a speech pathologist. Genetic counseling may be of benefit for patients and their families.[rarediseases.org] We report a 19-year-old woman with opened metopic and sagittal sutures and delayed closure of the anterior fontanelle.[ncbi.nlm.nih.gov] (c) Lateral skull radiograph showing hypoplasia of mid-facial bones, open sutures, wormian bones and metopic sutures.[indjos.com]

    Missing: Overfolded Superior Helix
  • Camptodactyly Syndrome Guadalajara Type 1

    speech and language development Ptosis Rare Symptoms - Less than 30% cases Intellectual disability, mild Malar flattening Hypoplasia of the maxilla Edema Inguinal hernia[mendelian.co] […] nose Thin skin Joint laxity Intellectual disability Arthrogryposis multiplex congenita Mandibular prognathia Congenital onset Generalized hypotonia Feeding difficulties Delayed[mendelian.co] Uncommon Symptoms - Between 30% and 50% cases Micrognathia Hearing impairment Scoliosis Global developmental delay Umbilical hernia Thin upper lip vermilion Pes planus Growth delay[mendelian.co]

    Missing: Open Metopic Suture
  • Familial Scaphocephaly Syndrome

    If untreated, more severe cases of flattening of the skull have been associated with: Problems with speech and language development Delayed intellectual and motor (movement[moveforwardpt.com] Causes The metopic suture is usually open at birth and fusion normally occurs in the first 12 months of life.[skullbaseinstitute.com] Only one suture - the metopic - normally closes during the first few years of life, and the others remain open into adulthood.[craniofacial.vcu.edu]

    Missing: Overfolded Superior Helix
  • Craniosynostosis

    With input from a speech and language therapist any initial delays in speech development usually improve with no lasting effects.[gosh.nhs.uk] The cranial sutures in neonates appear wide open and fuse with age from back to front and lateral to medial with the exception of the metopic suture, which fuses from front[ncbi.nlm.nih.gov] Due to neurologic and dentofacial deformities, many of these children may experience delays in speech production and language skills.[dovepress.com]

    Missing: Overfolded Superior Helix
  • Craniosytosis Type 4

    Due to neurologic and dentofacial deformities, many of these children may experience delays in speech production and language skills.[dovepress.com] All sutures remain open until adulthood, except for the metopic suture which usually closes between 6 and 12 months of age.[childrens.com] Figure 1: (a) X-ray of the skull with fused metopic suture and hypotelorism (b) intraoperative image showing opening up of the metopic suture and reshaped fronto-orbital bandeau[jclpca.org]

    Missing: Overfolded Superior Helix