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40 Possible Causes for Cerebral Ventriculomegaly, Hypoplastic Toenails

  • Lethal Neonatal Carnitine Palmitoyl Transferase II Deficiency

    toenails.[genome.jp] toenails, microcephaly, agenesis of corpus callosum, polymicrogyria and cerebral calcifications. [6] Babies could appear lethargic and hypotonic soon after birth as in the[jcnonweb.com] toenails 32 HP:0009058 Increased muscle lipid content 33 HP:0003573 Increased total bilirubin 34 HP:0007229 Intracerebral periventricular calcifications 35 HP:0006380 Knee[mseqdr.org]

  • Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome

    Information SOURCE: Beth Israel Deaconess Medical Center Information and Sonograms SOURCE: TheFetus.net Diagnosing and managing mild fetal cerebral ventriculomegaly SOURCE[perinatology.com] toenails Polydactyly Aplasia/Hypoplasia of the eyebrow Umbilical hernia Freckling Retinopathy Cafe-au-lait spot Narrow mouth Accelerated skeletal maturation Optic nerve hypoplasia[mendelian.co] (Also known as/Synonyms) Fetal Cerebral Ventriculomegaly Fetal Hydrocephalus Primary Hydrocephalus What is Congenital Hydrocephalus?[dovemed.com]

  • Gingival Fibromatosis-Progressive Deafness Syndrome

    Follow-up MRI studies often show worsening cerebral atrophy and increasing ventriculomegaly without obstructive hydrocephalus.[atlasgeneticsoncology.org] toenails Oligodontia Abnormal trabecular bone morphology Epidermal acanthosis Sparse scalp hair Abnormality of the skin Dry skin Congenital sensorineural hearing impairment[mendelian.co] […] abnormality of skin Dry hair Cellulitis Anodontia Recurrent skin infections Hemiplegia/hemiparesis Blepharitis Epiphora Sparse body hair Anonychia Abnormality of dental morphology Hypoplastic[mendelian.co]

  • Trisomy 9

    However, at 30 gestational weeks, intrauterine growth restriction and lateral cerebral ventriculomegaly (right, 14 mm) was observed.[molecularcytogenetics.biomedcentral.com] toenails.[ncbi.nlm.nih.gov] […] helices, midface hypoplasia, a broad nasal root with wide nasal alae, small mouth, micrognathia, short neck, overlapping fingers, rocker-bottom feet, prominent heels, and hypoplastic[ncbi.nlm.nih.gov]

  • Laron Syndrome with Immunodeficiency

    Syndrome 2 4 Van Maldergem Syndrome 1 3 Van Maldergem Syndrome 2 5 Variegate Porphyria 5 Vas Deferens, Congenital Bilateral Aplasia of, X-linked 3 Vasculopathy, Retinal, With Cerebral[preventiongenetics.com] toenails Overfolded helix Patent foramen ovale Nasal speech Deep philtrum Relative macrocephaly Coarse hair Low-set, posteriorly rotated ears Umbilical hernia Fetal akinesia[mendelian.co] Ventricular Fibrillation, Paroxysmal Familial, 2 2 Ventricular Septal Defect 1 4 Ventricular Septal Defect 3 6 Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 6 Ventriculomegaly[preventiongenetics.com]

  • Hoyeraal-Hreidarsson Syndrome

    Excessive wrinkled skin Generalized hyperpigmentation Generalized hypopigmentation of hair Hypertonia Nail dystrophy Oral leukoplakia Premature graying of hair Sparse scalp hair Ventriculomegaly[dovemed.com] toenail Congenital bullous ichthyosiform erythroderma Abnormality of neutrophils Urethral stenosis Interstitial pneumonitis Absent lacrimal punctum Abnormality of the eyelashes[mendelian.co] Occasionally present symptoms in 5-29% of the cases: Abnormality of leukocytes Ataxia Bone marrow hypocellularity Cerebral calcification Hyporeflexia Neoplasm (S ource: Hoyeraal[dovemed.com]

  • Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome

    […] calcification. may also develop some of the following symptoms: Uncommon Symptoms - Between 30% and 50% cases Ventriculomegaly Behavioral abnormality Glaucoma Growth delay[mendelian.co] Physical features can include an abnormally shaped head with a prominent occiput, low-set ears, micrognathia, short sternum, characteristic clenched fists, hypoplastic toenails[hawaii.edu] Optic atrophy Rare Symptoms - Less than 30% cases Pica Acrania Spasticity Intrauterine growth retardation Dilatation Strabismus Hypogonadotrophic hypogonadism Iris coloboma Cerebral[mendelian.co]

  • Congenital Exomphalos

    […] cortical atrophy Lipodystrophy Cerebral atrophy Coma Renal insufficiency Dysphagia Ventriculomegaly Frontal bossing Postductal coarctation of the aorta Preductal coarctation[mendelian.co] toenails Hyperextensible skin Laryngomalacia Pyloric stenosis Ganglioneuroblastoma Acanthoma Asymmetric septal hypertrophy Bladder carcinoma Cardiomyocyte hypertrophy Myofiber[mendelian.co] Arthrogryposis multiplex congenita Pectus carinatum Apnea Abnormality of the nervous system Sporadic Choroid plexus papilloma Hyperkeratosis Severe short stature Absent speech Cerebral[mendelian.co]

  • Pfeiffer-Palm-Teller Syndrome

    Smooth philtrum Cerebral visual impairment Febrile seizures Optic disc pallor Tapered finger Protruding ear Thin vermilion border Reduced visual acuity Round face Anteverted[mendelian.co] toenails Chronic otitis media Nevus flammeus Abnormality of the neck Loss of consciousness Down-sloping shoulders Blue irides Celiac disease Large earlobe Chronic constipation[mendelian.co] […] stature Strabismus Agammaglobulinemia Feeding difficulties in infancy Visual field defect Deeply set eye Calcific stippling Micrognathia Encephalopathy Prominent forehead Ventriculomegaly[mendelian.co]

  • Thanatophoric Dysplasia

    Cerebral ventriculomegaly worsened throughout life. Death due to respiratory failure occurred at age 5 months.[ncbi.nlm.nih.gov] […] or absent fifth fingernails or toenails.[mendelian.co] Coffin-Siris syndrome is a multiple malformation syndrome characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic[mendelian.co]

Further symptoms