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10 Possible Causes for Agenesis of the Occipital Lobes, Alopecia

  • Congenital Muscular Dystrophy

    Uncommonly, agenesis of septum pellucidum can be seen. Polymicrogyria typically seen in the frontal and parietal lobes.[neuroradiologycases.com] Pachygyria in approximately half of patients, typically involving the temporal and occipital lobes. Cerebellar polymicrogyria is seen in approximately 90% of patients.[neuroradiologycases.com]

  • Delleman Syndrome

    He had periorbital skin appendages associated with frontal and parietal alopecia. Overlying skin on these regions showed patches of focal dermal hypoplasia.[ijpd.in] Left Parieto-occipital lobe cerebral atrophy is also noted (c) sagittal image showing agenesis of the splenium of the corpus callosum and hypoplasia of the body, genu and[npmj.org] (b) More sulcation in the right frontal lobe compared to the left. (c) Colpocephaly. Note the prominence of the occipital horns of the lateral ventricles (left right).[journals.sagepub.com]

  • Occipital Encephalocele

    1 Tectocerebellar dysraphia with occipital encephalocele: a phenotypic variant of the TMEM231 gene mutation induced Joubert syndrome. ( 30617574 ) 2019 2 Alopecia secondary[malacards.org] MRI also showed mild hydrocephalus, hypoplasia of the corpus callosum and tentorium cerebelli, dropping down of the bilateral occipital lobes and vermicular agenesis.[link.springer.com] Magnetic resonance imaging (MRI) clearly showed an occipital cephalocele with a tiny cystic component connecting to the subarachnoid space.[link.springer.com]

  • Ring Chromosome 19

    […] karyotypes unavailable (12) 5 years/F––Growth delay–PMDDWilms tumor46,XX,r(11)(p15.5q25)Present case report5 years/FPrecocious puberty, severe hirsutism amenorrhea, androgenic alopecia[edmcasereports.com] […] of the corpus callosum and mild changes in the white matter in the occipital lobes; several generalized tonic-clonic seizures started at 1 year of age.[ssmc-tl.com] .: Familial short arm deficiency of chromosome 18 concomitant with arrhinencephaly and alopecia congenita. Amer. J. hum. Genet. 17 , 410–419 (1965).[link.springer.com]

  • Autosomal Recessive Distal Osteolysis Syndrome

    […] androgenic alopecia, see androgenetic alopecia ANE1, see acute necrotizing encephalopathy type 1 Anemia, Dyserythropoietic, Congenital, see congenital dyserythropoietic anemia[mygenomics.com] […] hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly[mendelian.co] […] autosomal recessive, type 11 ST14 Ichthyosis, lamellar type 2 ABCA12 Ichthyosis, lamellar type 3 CYP4F22 Ichthyosis, lamellar type 4 LIPN Ichthyosis, leukocyte vacuoles, alopecia[centogene.com]

  • Lethal Arthrogryposis - Anterior Horn Cell Disease Syndrome

    […] lymphocyte syndrome (BLS) type1 Bare lymphocyte syndrome (BLS) type2 Growth hormone insensitivity with immunodeficiency RIDDLE syndrome T-cell immunodeficiency congenital alopecia[csirnotes.com] […] hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly[mendelian.co] Areata Alopecia Universalis Congenita Alpers Syndrome Alpers-like Hepatocerebral Syndrome Alpha-1-Antitrypsin Deficiency Alpha-B Crystallinopathy with Cataract Alport Syndrome[sequencing.com]

  • Verloove-Van Horick-Brubakk Syndrome

    […] corpus callosum Hydroureter Coloboma Everted lower lip vermilion Hypoplasia of the maxilla Sparse and thin eyebrow Sparse eyelashes Bicuspid aortic valve Sparse eyebrow Alopecia[mendelian.co] […] hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly[mendelian.co] […] during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis[mendelian.co]

  • Chromosome 17p13.1 Deletion Syndrome

    […] hair Abnormality of the nasopharynx Sagittal craniosynostosis Auricular pit Upper limb undergrowth Bilateral elbow dislocations Abnormality of the abdominal wall Dysarthria Alopecia[mendelian.co] agenesis Occipital meningocele Cystic liver disease Urethral obstruction True hermaphroditism Large placenta Hypoplasia of the bladder Cerebral hypoplasia Urethral atresia[mendelian.co] Hypermetropia Abnormality of the foot Microtia Pes planus Sparse or absent eyelashes Multiple lentigines Frontal balding Endocardial fibroelastosis Retrognathia Osteoporosis Patchy alopecia[mendelian.co]

  • Short Rib-Polydactyly Syndrome Type Beemer-Langer

    Urethral obstruction Occipital meningocele Olfactory lobe agenesis Everted upper lip vermilion Broad foot Pancreatic islet-cell hyperplasia Cutaneous syndactyly Depressivity Alopecia[mendelian.co] […] meningocele Olfactory lobe agenesis Everted upper lip vermilion Broad foot Pancreatic islet-cell hyperplasia Cutaneous syndactyly Depressivity Alopecia Proteinuria Sparse[mendelian.co] Hypoplasia of the tongue Meningoencephalocele Short tibia Urethral atresia Cerebral hypoplasia Hypoplasia of the bladder Large placenta True hermaphroditism Urethral obstruction Occipital[mendelian.co]

  • Holoprosencephaly Type 2

    […] retardation syndrome type 3 PGAP2 Hyperphosphatasia with mental retardation syndrome type 4 PGAP3 Hyperphosphatasia with mental retardation syndrome type 5 PIGW Hypogonadism, alopecia[centogene.com] […] and occipital lobes.[pediatricneurosciences.com] Semi lobar: Partial separation of the posterior occipital and temporal lobes. Frontal brain is fused, thalami partially fused.[spinwarp.ucsd.edu]

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