Microcephaly is present in all patients (between -2 and -5.6 SD). Persistent hyperplastic primary vitreous (uni- or bilateral) was present in all cases reported so far and may be associated with microphthalmia, cataract or optic atrophy. [orpha.net]

The spinal fluid of the latter case showed normal protein, chloride, and glu- cose levels and no cells were present. [myslide.es]

Abstract Three of four offspring of consanguineous parents presented a unique association of microcephaly, mental retardation, spasticity, connective tissue abnormalities, cleft palate, persistent hypertrophic primary vitreous, and short stature. [ncbi.nlm.nih.gov]

• Aspiration

  Since the association of asthma with genetic malfor- mation syndromes is most unusual, the possibility of repeated aspirations in the presence of a cleft palate was initially con- sidered. [myslide.es]

• Sweating

  Alpha- 1 -antitrypsin was within normal range, sweat chloride determinations were normal, and PPD tests were negative. [myslide.es]

  […] syndrome Cold-induced sweating syndrome-hyperthermia spectrum Combined cervical dystonia Combined dystonia Combined oxidative phosphorylation defect type 11 Complex hereditary spastic paraplegia Congenital achiasma Congenital brain dysgenesis due to [se-atlas.de]

• Corneal Opacity

  Takahashi, Essential osteolysis associated with nephropathy, corneal opacity, and pulmonary stenosis. Am. J. Med. Genet. 41 (1991) 482–486. PubMed CrossRef Google Scholar Urlus, M., P. Roosen, J. Lammens, J. Victor, L. DeSmet, G. Molenaers and G. [link.springer.com]

  […] had mild microphthalmia, corneal opacities, coloboma of the iris, cataract, microphakia (abnormal smallness of the crystalline lens), congenital nystagmus, synechiae and abnormalities of the external ear. – Warburg Micro syndrome: caused by RAB3GAP1, [bredagenetics.com]

• Band-Shaped Keratopathy

  Secondary glaucoma of the affected eyes developed in case V-3 followed by cataracts, uveitis, leukoma adherens, and band shaped keratopathy and eventually the right eye progressed to absolute glaucoma and the left eye progressed to bulbar atrophy. [myslide.es]

• Small Hand

  OMIM : 58 Oculopalatocerebral syndrome is a rare disorder characterized by low birth weight, microcephaly, persistent hyperplastic primary vitreous, microphthalmia, large ears, small hands and feet, cleft palate, joint hypermobility, developmental delay [malacards.org]

  hands and feet, joint laxity, and large ears with thick helices. [ijn.mums.ac.ir]

  Oculo-palato-cerebral syndrome is an extremely rare disorder consisting of low birth weight, microcephaly, short stature, persistent hyperplastic primary vitreous, microphthalmia, large ears, small hands and feet, cleft palate, joint hypermobility, developmental [ncbi.nlm.nih.gov]

  Wereport on the second case of this disorder.Our patient, a 2-year-old boy, had growthdelay, microcephaly, bilateral persistenthyperplastic primary vitreous with rightmicrophthalmia, long ears with thickenedhelices, small hands and feet, highly archedpalate [documents.tips]

• Hyperlaxity

  Skeletal anomalies include pectus excavatum, joint hyperlaxity and kyphoscoliosis. Intellectual deficit (moderate to severe) is a constant feature and is associated with cerebral atrpohy or quadriplegia in some cases. [orpha.net]

  […] syndrome Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome Osteopetrosis and related disorders Osteopetrosis with renal tubular acidosis Osteopetrosis-hypogammaglobulinemia syndrome Osteoporosis-macrocephaly-blindness-joint hyperlaxity [se-atlas.de]

• Small Head

  head syndrome Cleft palate-short stature-vertebral anomalies syndrome Combined pituitary hormone deficiencies, genetic forms Congenital laryngeal web Czech dysplasia, metatarsal type Deafness-epiphyseal dysplasia-short stature syndrome Deficiency in [se-atlas.de]

  Major characteristics in males with this disorder may be a small head, broad forehead, flat bridge of the nose, wide space between the eyes, small mouth, cleft palate, downward slant of the opening between the upper and lower eyelids, small mouth, small [rarediseases.org]

• Sloping Shoulders

  Note the slender neck and the sloping shoulders. 416 F R Y D M A N E T A L focal atrophy at the left temporal lobe and moderate ventricular dilatation. Flg. 2. Case V-7, 4 years old. [myslide.es]

• Large Ears

  OMIM : 58 Oculopalatocerebral syndrome is a rare disorder characterized by low birth weight, microcephaly, persistent hyperplastic primary vitreous, microphthalmia, large ears, small hands and feet, cleft palate, joint hypermobility, developmental delay [malacards.org]

  ears with thick helices. [ijn.mums.ac.ir]

  Syndrome of cleft palate, microcephaly, large ears, and short stature (Say syndrome). Am. J. Med. Genet. 45 : 358-360. [ Links ] Ashton-Prolla, P. and Félix, T.M. (1997). [scielo.br]

  Oculo-palato-cerebral syndrome is an extremely rare disorder consisting of low birth weight, microcephaly, short stature, persistent hyperplastic primary vitreous, microphthalmia, large ears, small hands and feet, cleft palate, joint hypermobility, developmental [ncbi.nlm.nih.gov]

• Macrotia

  […] frequent (33%) Frequent (79-30%) HP:0001249 4 spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0001257 5 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518 6 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263 7 macrotia [malacards.org]

  […] no identified gene yet): already detectable in utero, the syndrome can be characterized by anophthalmia/microphthalmia, congenital glaucoma, blepharophimosis, cleft lip/cleft palate and other lip and palatal anomalies, bifid uvula, choanal atresia, macrotia [bredagenetics.com]

• Hearing Impairment

  impairment Niemann-Pick disease type A Niemann-Pick disease type C Niemann-Pick disease type C, adult neurologic onset Niemann-Pick disease type C, juvenile neurologic onset Niemann-Pick disease type C, late infantile neurologic onset Niemann-Pick disease [se-atlas.de]

• Suggestibility

  Genetic counseling Familial reoccurrence and evidence of consanguinity in two of the three reported families are suggestive of autosomal recessive inheritance. [orpha.net]

  The first patients described were offsprings of a consanguineous couple of Moroccan Jewish descent, suggesting autosomal recessive inheritance. An additional case was reported by Pellegrino et al. [2001: Am J Med Genet 99:200-203] in 2001. [ncbi.nlm.nih.gov]

• Bulbous Nose

  […] years 4 years 10 monthsPregnancy history HTN HTN HTN OligohydramniosBirth weight 2.0 SD 2.0 SD 2.0 SD 2.25 SDExamHead circumference 2.8 SD 5.2 SD 5.5 SD 4.2 SDHeight 2.5 SD 4.0 SD 3.2 SD 3.75 SDPHPV Bilateral Left Left Right/aborted leftFull cheeks Bulbous [documents.tips]

• Cryptorchidism

  Anomalies of the external genitalia were reported in some of the male patients, with two of the boys displaying cryptorchidism. Skeletal anomalies include pectus excavatum, joint hyperlaxity and kyphoscoliosis. [orpha.net]

  He died of pneumonia and autopsy finding included dystrophy, cachexia, microcephaly, micrencephaly due to cerebral gliosis, and abdominal cryptorchidism. No other anom- alies were described. Fig. 4. [dokumen.tips]

• Quadriplegia

  […] et al. [1985: Clin Genet 27:414-419] described a syndrome characterized by growth failure, microcephaly, persistent hyperplastic primary vitreous (PHPV) with microphthalmia, cleft palate, connective tissue abnormality, mental retardation, and spastic quadriplegia [ncbi.nlm.nih.gov]

  Intellectual deficit (moderate to severe) is a constant feature and is associated with cerebral atrpohy or quadriplegia in some cases. Hearing difficulties may also be present and a tendency for atopy is often noted. [orpha.net]

  Probable - 5.2 NM NM 0 Umbilical Severe NM v-7 4 Mild - 2.0 0 - 3.2 2.2 -2.1 - 3.0 Left 0 Severe - 5.5 Quadriplegia Possible 15' 0 0 Severe NM Not mentioned in medical records NA Not applicable. [myslide.es]

• Neonatal Hypotonia

  hypotonia Oxygen therapy Features: Typical face (Figs. 2, 3) Short Stature (SD) Upperllower segment ratio (SD) Small Hands (SD) Small Feet (SD) Midline Cleft Palate Large pointed ears Undescended testes Microphthalmos Secondary changes C.N.S. [myslide.es]

  hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion Severe neonatal-onset encephalopathy with microcephaly Severe neurodegenerative syndrome with lipodystrophy Short stature-intellectual disability-eye anomalies-cleft lip/palate syndrome [se-atlas.de]

• Neurologic Manifestation

  "Neurological manifestations of the oculodentodigital dysplasia syndrome". J. Neurol. 249 (5): 584–95. doi : 10.1007/s004150200068. PMID 12021949. Norton KK, Carey JC, Gutmann DH (1995). [en.wikipedia.org]

  Considerable variability in clinical ex- pression was observed in this family, and no correlation between the severity of the neurological manifestations and the extent of the ocular involvement was present. [myslide.es]

Management and treatment Treatment should include surgical correction of the palate anomalies and management of the visual problems. Physical and speech therapy should also be recommended. [orpha.net]

Food and Drug Administration has chosen Wave Life Sciences’ planned phase 2/3 study of suvodirsen, its lead experimental therapy for the treatment of Duchenne muscular dystrophy, to break new ground. [globalgenes.org]

Prognosis Although no data are available on the long-term prognosis, the nature of the anomalies suggests that life expectancy for these patients is normal. The documents contained in this web site are presented for information purposes only. [orpha.net]

Etiology So far, neither a causative gene nor locus has been identified. [orpha.net]

Common etiologies of neonatal pleural effusion. Pediatr Neonatol. 2011; 52(5):251-5. 11. Caserio S, Gallego C, Martin P, Moral MT, Pallás CR, Galindo A. Congenita chylothorax: from foetal life to adolescence. Acta Paediatr. 2010; 99(10):1571-7. 12. [ijn.mums.ac.ir]

Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular [books.google.com]

Summary Epidemiology It has been described in five patients (three boys and two girls). Clinical description Maternal hypertension, oligoamnios and intrauterine growth retardation (IUGR) are often noted during pregnancy. [orpha.net]

Acquired pendular nystagmus: its characteristics, localising value and pathophysiology. J Neurol Neurosurg Psychiatry 1974; 37 :570–7. 4. Gautier JC, Blackwood W. [nature.com]

With treatment, doctors often can prevent loss of vision. [familydiagnosis.com]

Centers for Disease Control and Prevention Intersex [ Read More ] [icdlist.com]

The specific insults that prevent regression of the primary vitreous remain unknown. [medtextfree.wordpress.com]

Arrayit Corporation ( ARYC ) leads and empowers the genetic, research, pharmaceutical, and diagnostic communities through the discovery, development and manufacture of proprietary life science technologies and consumables for disease prevention, treatment [arrayit.com]