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18 Possible Causes for Mild Maxillary Prognathism, Short Stature

  • Baller-Gerold Syndrome

    In the second family, the affected male had craniosynostosis, radial ray defect, poikiloderma, and short stature. He had a homozygous splice site mutation (IVS17-2A C).[ncbi.nlm.nih.gov] Note maxillary hypoplasia, ocular proptosis with mild relative prognathism. (From Renier et al. 2000) syndrome is genetically heterogeneous.[rrnursingschool.biz] Geister KA, Camper SA: Advances in skeletal dysplasia genetics. Annu Rev Genomics Hum Genet 2015;16: 199–227.[karger.com]

  • Saethre-Chotzen Syndrome

    Its phenotype includes uni- or bicoronal synostosis, short stature, facial dysmorphism and variable anomalies of the hands and feet.[ncbi.nlm.nih.gov] The leptoprosopic flat face with mild maxillary hypoplasia and relative mandibular prognathism was exemplified by a prominent chin [ Figure 2 ].[ncbi.nlm.nih.gov] Supplementary skeleton anomalies consist of unusual vertebral shape, hyperlordosis or scoliosis and short stature.[symptoma.com]

  • Peters Anomaly

    Abstract Two sibs with a phenotype characterised by short stature, brachydactyly, and ocular anomalies (Peters' anomaly) are reported (Peters'-plus syndrome).[ncbi.nlm.nih.gov] They include mild dysmorphism (hypertelorism, broad flat nose, maxillary hypoplasia, and mild prognathism), dental anomalies (microdontia, hypodontia, anodontia, oligodontia[glaucomatoday.com] One patient had fetal alcohol syndrome; one, Pfeiffer's syndrome; and one, short stature, ulnar hypoplasia, and joint laxity.[ncbi.nlm.nih.gov]

  • Micrognathism

    FMD is characterized by a generalized skeletal dysplasia, deafness and urogenital defects.[findzebra.com] […] of the teeth -Mild prognathism www.indiandentalacademy.com 19.  Hypoparathyroidism - retarded eruption -early exfoliation -enamel defects  Hyperparathyroidism - demineralization[slideshare.net] Click export CSV or RIS to download the entire page or use the checkboxes to select a subset of records to download Ear patella short stature syndrome weight gain, and characteristic[evidence.nhs.uk]

  • Rieger Syndrome

    Stature Oligodontia-Colorectal Cancer Syndrome Pinheiro Freire-Maia Miranda Syndrome Schopf-Schulz-Passarge Syndrome Single Upper Central Incisor Split-Hand and Split-Foot[rgd.mcw.edu] Facies: - Maxillary hypoplasia - Mild prognathism ... Teeth: - Microdontia - Hypodontia - Cone - shaped teeth ... Ear: - Abnormal ear ... Abdomen: - Umbilical hernia ...[ibis-birthdefects.org] They include mild dysmorphism (hypertelorism, broad flat nose, maxillary hypoplasia, and mild prognathism), dental anomalies (microdontia, hypodontia, anodontia, oligodontia[glaucomatoday.com]

  • Axenfeld-Rieger Syndrome Type 3

    We report a patient with Peters anomaly, dysmorphic features, congenital heart defect, umbilical hernia, short stature, and developmental delay.[karger.com] They include mild dysmorphism (hypertelorism, broad flat nose, maxillary hypoplasia, and mild prognathism), dental anomalies (microdontia, hypodontia, anodontia, oligodontia[glaucomatoday.com] Short stature due to a growth hormone deficiency may be treated with growth hormone.[rarediseases.info.nih.gov]

  • Craniosynostosis Type 3

    Additional findings are hypotrichosis (sparse hair), cataracts, skin atrophy, dental anomalies and short stature.[bredagenetics.com] Note maxillary hypoplasia, ocular proptosis with mild relative prognathism. (From Renier et al. 2000) syndrome is genetically heterogeneous.[rrnursingschool.biz] He presented with brachycephaly, bilateral prominent ear crus, and short stature (161 cm).[nature.com]

  • Familial Scaphocephaly Syndrome

    stature, craniofacial abnormalities (abnormalities of brain and face), and freckles on the penis and vulva.[dovemed.com] Note maxillary hypoplasia, ocular proptosis with mild relative prognathism. (From Renier et al. 2000) syndrome is genetically heterogeneous.[rrnursingschool.biz] Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype.[jmg.bmj.com]

  • Robinow-Sorauf Syndrome

    Less common signs and symptoms of Saethre-Chotzen syndrome include short stature, abnormalities of the bones of the spine (the vertebra), hearing loss, and heart defects.Robinow-Sorauf[gepedia.com] The leptoprosopic flat face with mild maxillary hypoplasia and relative mandibular prognathism was exemplified by a prominent chin [Figure 2].[ijdentistry.com] RELATED Low match EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS; EDMMD Multiple epiphyseal dysplasia, Beighton type is a skeletal dysplasia characterized[mendelian.co]

  • Isolated Trigonocephaly

    stature, joint contractures and dislocations and various others physical findings(l-3).[indianpediatrics.net] Note maxillary hypoplasia, ocular proptosis with mild relative prognathism. (From Renier et al. 2000) syndrome is genetically heterogeneous.[rrnursingschool.biz] […] first reported by Opitz, et al. in 1969 and is characterized by trigonocephaly (prominent metopic sutures), multiple buccal frenula, polydactyly, skin laxity, primordial short[indianpediatrics.net]

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