Create issue ticket

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[] […] prominent forehead Ocular proptosis Widely spaced eyes Downslanted palpebral fissures Malar flattening High narrow palate with prominent palatine ridges Micrognathia and/or retrognathia[] Additional dysmorphic features may include maxillary hypoplasia, hypodontia, high arched palate, short neck, small hands, brachydactyly, fifth finger clinodactyly, fetal finger[]

  • Crouzon Syndrome

    Other associations are aniridia, blue sclera, cataract, coloboma, ectopia lentis and optic nerve hypoplasia. No medical treatment exists for craniosynostosis.[] […] 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[] Patient had short neck and difficulty in turning his neck on both right and left sides.[]

  • Schinzel-Giedion Syndrome

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

  • Platyspondyly

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

  • Baraitser-Winter Syndrome 1

    sclera, epicanthal folds, keratoconus AD COL5A1 and COL5A2, COL3A1, TNXB Multiple ENHANCED S-CONE SYNDROME Vitreoretinal degeneration, retinoschisis, hemeralopia, macular[] 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%).[] In addition, the phenotype includes dwarfism with short neck and heart malformations.[]

  • 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.[] 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.[] Manifestations included neonatal respiratory distress, large head, midface hypoplasia, flat nasal bridge, short nose, micrognathia, cleft palate, short neck, micromelia, and[]

  • Raine Syndrome

    0 Reply buphthalmos and small extremities achondroplasia 2 Reply blue sclera,disproportionate body,small limbs,macroglossia,small mouth, ?[] […] 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[] neck * Stillbirth * Retarded fetal growth Causes - Raine syndrome Not supplied.[]

  • 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[] 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[] Anaesthetic-related problems may occur due to the patient's relatively large head and tongue, and for those patients with short necks.[]

  • Trisomy 4p

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

  • 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[] The craniofacial features were, prominent eyes, hypertelorism, facial asymmetry, retrognathia, coarse and thick scalp hair, ptyrigium colli, (more marked on the right side[] neck ; Short nose ; Talipes equinovarus ; Tarsal synostosis Associated Genes FLNB (Withdrawn symbols: ABP-278, FH1, FLN1L, LRS1, TABP, TAP ) Mouse Orthologs Flnb (Withdrawn[]

Similar symptoms