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12 Possible Causes for Buccal Frenulae, Failure to Thrive, Pelvic Dysplasia

  • Ellis-Van Creveld Syndrome

    We discuss this potentially serious condition with congenital heart malformations that can result in failure to thrive and even death if not recognized early.[ncbi.nlm.nih.gov] [Figure 3] and [Figure 4], serrations of the alveolar ridge were observed distally to the upper central incisors [Figure 5], obliteration of both buccal and labial vestibule[drjjournal.net] Additionally, newborns and infants with heart disease and cardiac failure will exhibit dyspnea, cyanosis, heart murmur, failure to thrive, and other manifestations.[symptoma.com]

  • Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome

    FGFR1 Otofaciocervical syndrome EYA1 Otospondylomegaepiphyseal dysplasia COL2A1 Otospondylomegaepiphyseal dysplasia COL11A2 Pallister-Hall syndrome GLI3 Papillorenal syndrome[centogene.com] […] to thrive, short stature, feeding difficulties, sternal deformity, renal malformation, pubertal delay, cryptorchidism, developmental or behavioral problems, vision problems[aafp.org] frenulae (skin connecting the cheek to the gums) Depressed nasal bridge Anterverted nares (nasal openings are tipped upwards) Low-set posteriorly rotated ears Retrognathia[bohring-opitz.org]

  • X-Linked Mandibulofacial Dysostosis

    dysplasia Pallister-Hall syndrome Papillorenal syndrome Parietal foramina Pelger-Huet anomaly Pelvic organ prolapse, LAMC1 related Perlman Syndrome Pfeiffer syndrome Phelan-McDermid[qlinics.com] […] to thrive, Growth retardation, Congenital malformations (30%-50%) 1:100,000 and 1:200,000 Age of onset: 1 year Dyserythropoietic anemia COX4I2, C15orf41, KIF23, KLF1 Moderate[centogene.com] frenula, microglossia, micrognathia, cleft palate, malformed ears TF Paired box homeotic gene-3 PAX3 2q35 193500 Waardenburg syndrome, type I 193500 AD wide nasal bridge,[widesmiles2.org]

  • Hypotonia-Failure to Thrive-Microcephaly Syndrome

    dysplasia Other feats: Craniofacial - brachycephaly, flat occiput, prominent epicanthal folds, speckled irises (Brushfield spots), 3 fontanelles with delayed closure, midface[quizlet.com] […] rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly.[orpha.net] frenulae (skin connecting the cheek to the gums) Depressed nasal bridge Anterverted nares (nasal openings are tipped upwards) Low-set posteriorly rotated ears Retrognathia[bohring-opitz.org]

  • Pallister W Syndrome

    dysplasia arthrogryposis of lower limbs Pelvic hypoplasia with arthrogryposis of lower limbs - See Pelvic dysplasia arthrogryposis of lower limbs Pelvic hypoplasia with lower[herenciageneticayenfermedad.blogspot.com] […] main genetic causes and other rarer cause of PWS all involving chromosome 15 give rise to a pattern of atypical early development characterised by extreme floppiness and failure[ipwso.org] These include a short nose with flat nasal bridge, low-set and posteriorly angulated ears, cleft palate, cleft uvula, buccal frenula, bifid epiglottis, and cleft larynx.[ajnr.org]

  • Familial Scaphocephaly Syndrome

    dysplasia, forming a trigonocephaly syndrome.[skullbaseinstitute.com] Failure to thrive can occur in the absence of nutritional support (e.g., nasogastric tube, feeding gastrostomy).[pocketdentistry.com] frenula, limb defects, visceral anomalies involving the genitalia, heart, and intestine, redundant skin, joint contractures and dislocations, hemangiomas, mental deficiency[rrnursingschool.biz]

  • Simpson Dysmorphia Syndrome

    Azouz type Renal glycosuria Methylmalonic aciduria, cblB type Pelvic dysplasia arthrogryposis of lower limbs Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar[checkrare.com] Severe X-linked mitochondrial encephalomyopathy Severe congenital nemaline myopathy Severe early-onset axonal neuropathy due to MFN2 deficiency Severe feeding difficulties-failure[se-atlas.de] frenula, microglossia, micrognathia, cleft palate, malformed ears TF Paired box homeotic gene-3 PAX3 2q35 193500 Waardenburg syndrome, type I 193500 AD wide nasal bridge,[widesmiles2.org]

  • Curry Hall Syndrome

    dysplasia-arthrogryposis of lower limbs syndrome Pelvis-shoulder dysplasia Pelviscapular dysplasia Perinatal lethal hypophosphatasia Peripheral dysostosis Periventricular[se-atlas.de] […] to thrive, facial dysmorphism, ambiguous, genitalia, syndactyly, postaxial polydactyly, Hirschprung disease, cardiac and renal malformations Autosomal recessive Rutledge[glowm.com] These may include the presence of certain teeth at birth (natal teeth), abnormal folds of movement-limiting mucous membrane tissue in the cheek area of the mouth (buccal frenula[rarediseases.org]

  • Lethal Occipital Encephalocele - Skeletal Dysplasia Syndrome

    dysplasia-arthrogryposis of lower limbs syndrome Pelvis-shoulder dysplasia Pelviscapular dysplasia Perinatal lethal hypophosphatasia Peripheral dysostosis Periventricular[se-atlas.de] […] to thrive, developmental delay and liver disease.[mendelian.co] frenulae, bilateral preaxial polydactyly of feet and postaxial polydactyly of hands) accompanied by microcephaly, micropenis and severe intellectual disabilities.[ciliajournal.biomedcentral.com]

  • Orofaciodigital Syndrome Type 7

    dysplasia Pallister-Hall syndrome Papillorenal syndrome Parietal foramina Pelger-Huet anomaly Pelvic organ prolapse, LAMC1 related Perlman Syndrome Pfeiffer syndrome Phelan-McDermid[qlinics.com] […] to thrive Faltering weight Weight faltering [ more ] 0001508 Feeding difficulties Feeding problems Poor feeding [ more ] 0011968 High, narrow palate Narrow, high-arched roof[rarediseases.info.nih.gov] frenulae, bilateral preaxial polydactyly of feet and postaxial polydactyly of hands) accompanied by microcephaly, micropenis and severe intellectual disabilities.[doi.org]

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