Create issue ticket

80 Possible Causes for Microphthalmos, Slender Long Bones

  • Hallermann-Streiff Syndrome

    Slender long bones with fractures have been described in a fetus with facial appearance of HSS. 4 We think that fractures of long bones should be considered a possible complication[adc.bmj.com] The microphthalmos had overlapping posterior segment findings usually reported with Nanophthalmos and Posterior microphthalmos.[ncbi.nlm.nih.gov] long bone Long bones slender Thin long bones [ more ] 0003100 Small for gestational age Birth weight less than 10th percentile Low birth weight [ more ] 0001518 Sparse hair[rarediseases.info.nih.gov]

  • Kenny-Caffey Syndrome Type 1

    […] clavicles ; Proportionate short stature ; Recurrent bacterial infections ; Seizures ; Short foot ; Short palm ; Slender long bone ; Small hand ; Tetany ; Thin clavicles ;[mousephenotype.org] Abnormal circulating follicle-stimulating hormone level 0030346 Anemia Low number of red blood cells or hemoglobin 0001903 Basal ganglia calcification 0002135 Bilateral microphthalmos[rarediseases.info.nih.gov] long bones with medullary stenosis, thickened cortex of the long bones, hypocalcemia possibly with tetany at an early age, hyperphosphatemia, ocular abnormalities, and normal[semanticscholar.org]

  • Patau Syndrome

    This term is used to describe abnormally long and slender feet with pointed heels turned outward like the bottom rails of a rocker.[encyclopedia.com] Spina bifida is a condition in which the spinal cord is partially open at birth instead of being covered by the bones of the spinal column. Abnormal genitalia.[encyclopedia.com]

  • Marshall-Smith Syndrome

    long bone Long bones slender Thin long bones [ more ] 0003100 Thin skin 0000963 30%-79% of people have these symptoms Blue sclerae Whites of eyes are a bluish-gray color[rarediseases.info.nih.gov] […] disabilities) 759.89 Marchesani (-Weill) syndrome (brachymorphism and ectopia lentis) 759.89 Meyer-Schwickerath and Weyers syndrome (dysplasia oculodentodigitalis) 759.89 Microphthalmos[icd9data.com] […] eye Eyeballs bulging out Prominent eyes Prominent globes Protruding eyes [ more ] 0000520 Retrognathia Receding chin Receding lower jaw Weak chin Weak jaw [ more ] 0000278 Slender[rarediseases.info.nih.gov]

  • Oculodentodigital Dysplasia

    long bone Prematurely aged appearance Striae distensae Lissencephaly Osteolytic defects of the phalanges of the hand Increased thyroid-stimulating hormone level Thin calvarium[mendelian.co] To the best of our knowledge, this is the first report on ODDD associated with relative anterior microphthalmos and myopia.[ncbi.nlm.nih.gov] @article{b70d58e8f1ac42ecb1556888901df492, title "Relative anterior microphthalmos in oculodentodigital dysplasia", abstract "Here, we report a patient with oculodentodigital[hungary.pure.elsevier.com]

  • Sclerocornea

    His skeletal survey showed retrognathia, mild thickening of skull, sclerosis of mastoid cells, thoracic and lumbar scoliosis, gracile ribs, narrow iliac, slender long bones[ashg.org] A case of bilateral sclerocornea, microphthalmos cornea plana and microcornea with extrophia vesicae.[healio.com] Secondary CCO (severe sclerocornea) with cataract, coloboma, and microphthalmos. The child was small for age, had failure to thrive with cardiac anomalies also.[topsy.one]

  • Sanjad-Sakati Syndrome

    long bones with thickened cortex and medullary stenosis.[ijem.in] […] acromicria - Thin / retracted lips Frequent - Anomalies of teeth and dentition - Enamel anomaly - Repeat respiratory infections Occasional - Anophthalmos / anophthalmia / microphthalmos[csbg.cnb.csic.es] The patient had typical facial dysmorphism, consisting of prominent forehead, deep set eyes, abnormal external ears, microcephaly, microphthalmos, thin upper lip, beaked small[kundoc.com]

  • Congenital Ankyloblepharon

    long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose,[mendelian.co] Microphthalmos (small eyeball) . Pseudostrabismus . Management should be carried out under medical supervision.[nhp.gov.in] The condition frequently accompanies other developmental anomalies such as anophthalmos, microphthalmos, ptosis , or cleft lip.[mussenhealth.us]

  • Postaxial Oligodactyly, Tetramelic

    long bone Hypokinesia Hyperostosis Disproportionate short-limb short stature Flared metaphysis Growth abnormality Redundant skin Cardiac arrest Ankyloglossia Thin clavicles[mendelian.co] […] epilepsy Microcephaly mesobrachyphalangy tracheoesophageal fistula syndrome Microcephaly microcornea syndrome Seemanova type Microcephaly micropenis convulsions Microcephaly microphthalmos[sosu.us] […] occult complementation cblA cblB aciduriaMHC tire baby syndromeMichels Caskey osteodysplastic primordial Microcephalic tooth albinism spine fusion microcornea Seemanova microphthalmos[borghesan.com]

  • Cerebro-Oculo-Facio-Skeletal Syndrome Type 4

    […] disabilities) 759.89 Marchesani (-Weill) syndrome (brachymorphism and ectopia lentis) 759.89 Meyer-Schwickerath and Weyers syndrome (dysplasia oculodentodigitalis) 759.89 Microphthalmos[icd9data.com] […] intellectual disabilities) 759.89 Marchesani (-Weill) (brachymorphism and ectopia lentis) 759.89 Menkes' 759.89 Meyer-Schwickerath and Weyers (dysplasia oculodentodigitalis) 759.89 microphthalmos[icd9data.com]

Further symptoms

Similar symptoms