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335 Possible Causes for Blue Sclera, Retrognathia, Short Neck

  • Goldberg-Shprintzen Syndrome

    Dysmorphological evaluation at 5 years (fig 2 ) showed high arched eyebrows, dense curled eyelashes, a broad nasal bridge, blue sclerae, large corneae (corneal diameter 13.5[jmg.bmj.com] […] prominent forehead Ocular proptosis Widely spaced eyes Downslanted palpebral fissures Malar flattening High narrow palate with prominent palatine ridges Micrognathia and/or retrognathia[ncbi.nlm.nih.gov] Additional dysmorphic features may include maxillary hypoplasia, hypodontia, high arched palate, short neck, small hands, brachydactyly, fifth finger clinodactyly, fetal finger[orpha.net]

  • Crouzon Syndrome

    Other associations are aniridia, blue sclera, cataract, coloboma, ectopia lentis and optic nerve hypoplasia. No medical treatment exists for craniosynostosis.[casereports.bmj.com] […] intubated the trachea using airway exchange catheter inserted through LMA Fastrach. [10] Our patient had history and features suggestive of difficult airway (high-arched palate, retrognathia[aeronline.org] Patient had short neck and difficulty in turning his neck on both right and left sides.[omicsonline.org]

  • Schinzel-Giedion Syndrome

    sclerae; Downward slanting palpebral fissures; Iris coloboma; Choroid coloboma; Optic disc coloboma; [Nose]; Thin, small pointed nose; Nasal cartilage hypoplasia; [Mouth][findzebra.com] […] toes [ more ] 0001845 Pulmonary hypoplasia Small lung Underdeveloped lung [ more ] 0002089 Respiratory distress Breathing difficulties Difficulty breathing [ more ] 0002098 Retrognathia[rarediseases.info.nih.gov] , and a short neck.[ncbi.nlm.nih.gov]

  • Platyspondyly

    sclera.[mendelian.co] […] pellucidum Back pain Hypoglycemia Gonadoblastoma Slurred speech Feeding difficulties in infancy Prominent occiput Wheezing Abnormality of the penis Bilateral talipes equinovarus Retrognathia[mendelian.co] neck Short femoral neck Spondyloepiphyseal dysplasia Short metacarpal Irregular vertebral endplates Pain Autosomal recessive inheritance Arthralgia Joint laxity Waddling[mendelian.co]

  • Baraitser-Winter Syndrome 1

    sclera, epicanthal folds, keratoconus AD COL5A1 and COL5A2, COL3A1, TNXB Multiple ENHANCED S-CONE SYNDROME Vitreoretinal degeneration, retinoschisis, hemeralopia, macular[eyewiki.aao.org] There is retrognathia, a pointed chin, a wide mouth with downturned corners and an everted lower lip, which may be secondary to retrognathia (17/39–44%).[ncbi.nlm.nih.gov] In addition, the phenotype includes dwarfism with short neck and heart malformations.[pediatricneurosciences.com]

  • Kniest Dysplasia

    Their sclerae are blue that becomes gray to pale blue in adulthood. Arcus senilis, not related to lipid abnormalities, may occur in some patients.[nature.com] The mandibular retrognathia was pronounced at an early age but improved with growth. At age 11 years the patient had a straight facial skeletal profile.[ncbi.nlm.nih.gov] Manifestations included neonatal respiratory distress, large head, midface hypoplasia, flat nasal bridge, short nose, micrognathia, cleft palate, short neck, micromelia, and[ncbi.nlm.nih.gov]

  • Raine Syndrome

    0 Reply buphthalmos and small extremities achondroplasia 2 Reply blue sclera,disproportionate body,small limbs,macroglossia,small mouth, ?[dailyrounds.org] […] circumference [ more ] 0000252 Micrognathia Little lower jaw Small jaw Small lower jaw [ more ] 0000347 Posteriorly rotated ears Ears rotated toward back of head 0000358 Retrognathia[rarediseases.info.nih.gov] neck * Stillbirth * Retarded fetal growth Causes - Raine syndrome Not supplied.[checkorphan.org]

  • Osteogenesis Imperfecta Type 2

    The disease is characterized by short limb dwarfism, thin skin, soft skull, unusually large fontanels (soft spots), blue sclerae (whites of the eyes, small nose, low nasal[medicinenet.com] A baby with sign and symptoms with macrocephaly, retrognathia, low set ears, widely placed eyes with white sclerae, complete cleft palate, narrow chest, curved and shortened[adpublications.org] Anaesthetic-related problems may occur due to the patient's relatively large head and tongue, and for those patients with short necks.[patient.info]

  • Trisomy 4p

    Brachycephaly, cutis aplasia congenita, blue sclerae, hypertelorism, polydactyly, hypoplastic nipples, failure to thrive, and developmental delay: a distinct autosomal recessive[emedicine.medscape.com] […] share an overlapping phenotypic expression that constitutes pure trisomy 4p syndrome which includes prominent glabella, bulbous nose with flat or depressed nasal bridge, retrognathia[ncbi.nlm.nih.gov] […] asymmetric eyes, small ears, a short neck, finger/toe abnormalities, and behavioral problems.[ncbi.nlm.nih.gov]

  • Spondylocarpotarsal Synostosis

    Mutations in the linkeropathy genes ( XYLT1, XYLT2, B4GALT7, B3GALT6, and B3GAT3 ) can be associated with ocular findings, including blue sclerae, refractive errors, corneal[rarediseases.org] The craniofacial features were, prominent eyes, hypertelorism, facial asymmetry, retrognathia, coarse and thick scalp hair, ptyrigium colli, (more marked on the right side[scoliosisjournal.biomedcentral.com] neck ; Short nose ; Talipes equinovarus ; Tarsal synostosis Associated Genes FLNB (Withdrawn symbols: ABP-278, FH1, FLN1L, LRS1, TABP, TAP ) Mouse Orthologs Flnb (Withdrawn[mousephenotype.org]

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