Abnormal facial shape, and Cerebellar hypoplasia

Diseases related with Abnormal facial shape and Cerebellar hypoplasia

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Cerebellar hypoplasia that can help you solving undiagnosed cases.


Top matches:

Low match HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES; HYC3


HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES; HYC3 Is also known as hydrocephalus, nonsyndromic, autosomal recessive 3, formerly

Related symptoms:

  • Abnormal facial shape
  • Ventriculomegaly
  • Hydrocephalus
  • Cerebellar hypoplasia
  • Polyhydramnios


SOURCES: OMIM MENDELIAN

More info about HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES; HYC3

Low match CHUDLEY-MCCULLOUGH SYNDROME


Chudley-McCullough syndrome is a rare, genetic, syndromic deafness characterized by severe to profound, bilateral, sensorineural hearing loss (congenital or rapidly progressive in infancy) associated with a complex brain malformation including hydrocephalus, varying degrees of partial corpus callosum agenesis, colpocephaly, cerebral and cerebellar cortical dysplasia (bilateral medial frontal polymicrogyria, bilateral frontal subcortical heteropia) and, in some, arachnoid cysts. Major physical abnormalities or psychomotor delay are usually not associated.

CHUDLEY-MCCULLOUGH SYNDROME Is also known as dfnb82, formerly|deafness, sensorineural, with partial agenesis of the corpus callosum and arachnoid cysts|deafness, autosomal recessive 82, formerly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CHUDLEY-MCCULLOUGH SYNDROME

Low match X-LINKED COMPLICATED CORPUS CALLOSUM DYSGENESIS


X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome, see this term). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Muscle weakness


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED COMPLICATED CORPUS CALLOSUM DYSGENESIS

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Other less relevant matches:

Low match X-LINKED INTELLECTUAL DISABILITY-SHORT STATURE-OVERWEIGHT SYNDROME


X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterized by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioral problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consitent pattern has been noted.

X-LINKED INTELLECTUAL DISABILITY-SHORT STATURE-OVERWEIGHT SYNDROME Is also known as mental retardation, x-linked 35|mrx35

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-SHORT STATURE-OVERWEIGHT SYNDROME

Low match LISSENCEPHALY 1; LIS1


Lissencephaly (LIS), literally meaning smooth brain, is characterized by smooth or nearly smooth cerebral surface and a paucity of gyral and sulcal development, encompassing a spectrum of brain surface malformations ranging from complete agyria to subcortical band heterotopia (SBH). Classic lissencephaly is associated with an abnormally thick cortex, reduced or abnormal lamination, and diffuse neuronal heterotopia. SBH consists of circumferential bands of heterotopic neurons located just beneath the cortex and separated from it by a thin band of white matter. SBH represents the less severe end of the lissencephaly spectrum of malformations (Pilz et al., 1999, summary by Kato and Dobyns, 2003). Agyria, i.e., brain without convolutions or gyri, was considered a rare malformation until recent progress in neuroradiology (Bordarier et al., 1986). With this technical advantage, a number of lissencephaly syndromes have been distinguished.Classic lissencephaly (formerly type I) is a brain malformation caused by abnormal neuronal migration at 9 to 13 weeks' gestation, resulting in a spectrum of agyria, mixed agyria/pachygyria, and pachygyria. It is characterized by an abnormally thick and poorly organized cortex with 4 primitive layers, diffuse neuronal heterotopia, enlarged and dysmorphic ventricles, and often hypoplasia of the corpus callosum. (Lo Nigro et al., 1997).Kato and Dobyns (2003) presented a classification system for neuronal migration disorders based on brain imaging findings and molecular analysis. The authors also reviewed the contributions and interactions of the 5 genes then known to cause human lissencephaly: LIS1 or PAFAH1B1, 14-3-3-epsilon (YWHAE), DCX, RELN, and ARX. Genetic Heterogeneity of LissencephalyLissencephaly is a genetically heterogeneous disorder. See also LIS2 (OMIM ), caused by mutation in the RELN gene (OMIM ) on chromosome 7q22; LIS3 (OMIM ), caused by mutation in the TUBA1A gene (OMIM ) on chromosome 12q13; LIS4 (OMIM ), caused by mutation in the NDE1 gene (OMIM ) on chromosome 16p13; LIS5 (OMIM ), caused by mutation in the LAMB1 gene (OMIM ) on chromosome 7q; LIS6 (OMIM ), caused by mutation in the KATNB1 gene (OMIM ) on chromosome 16q21; LIS7 (OMIM ), caused by mutation in the CDK5 gene (OMIM ) on chromosome 7q36; and LIS8 (OMIM ), caused by mutation in the TMTC3 gene (OMIM ) on chromosome 12q21.X-linked forms include LISX1 (OMIM ), caused by mutation in the DCX gene (OMIM ) on chromosome Xq22.3-q23, and LISX2 (OMIM ), caused by mutation in the ARX gene (OMIM ) on chromosome Xp22.3-p21.1.See also Miller-Dieker lissencephaly syndrome (MDLS ), a contiguous gene microdeletion syndrome involving chromosome 17p13 and including the PAFAH1B1 and YWHAE (OMIM ) genes. Lissencephaly caused by mutations in the PAFAH1B1 gene is also called 'isolated' lissencephaly to distinguish it from the accompanying features of MDLS.

LISSENCEPHALY 1; LIS1 Is also known as lissencephaly, classic|ils|lissencephaly sequence, isolated

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about LISSENCEPHALY 1; LIS1

Low match GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15


GPIBD15 is an autosomal recessive disorder characterized by delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most patients, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis (summary by Nguyen et al., 2017).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15 Is also known as developmental delay, epilepsy, cerebellar atrophy, and osteopenia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15

Low match GALLOWAY-MOWAT SYNDROME 4; GAMOS4


Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 4; GAMOS4

Low match CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME


Cortical dysplasia-focal epilepsy syndrome is a rare genetic epilepsy characterized by relatively large head circumference or macrocephaly, diminished or absent deep-tendon reflexes and mild gross motor delay in infancy, followed by intractable focal seizures with language regression, behavioral abnormalities (hyperactivity, attention deficit, aggressive/autoaggressive behavior, autistic features) and intellectual disability later in life.

CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME Is also known as cdfe syndrome|cortical dysplasia-focal epilepsy syndrome|cdfes

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME

Low match LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA; LIS7


Lissencephaly-7 with cerebellar hypoplasia is a severe neurodevelopmental disorder characterized by lack of psychomotor development, facial dysmorphism, arthrogryposis, and early-onset intractable seizures resulting in death in infancy (summary by Magen et al., 2015).For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA; LIS7

Low match MULTINUCLEATED NEURONS-ANHYDRAMNIOS-RENAL DYSPLASIA-CEREBELLAR HYPOPLASIA-HYDRANENCEPHALY SYNDROME


MARCH is an autosomal recessive lethal congenital disorder characterized by severe hydranencephaly with almost complete absence of the cerebral hemispheres, which are replaced by fluid, relative preservation of the posterior fossa structures, and renal dysplasia or agenesis. Affected fetuses either die in utero or shortly after birth, and show arthrogryposis and features consistent with anhydramnios. Histologic examination of residual brain tissue shows multinucleated neurons resulting from impaired cytokinesis (summary by Frosk et al., 2017).

MULTINUCLEATED NEURONS-ANHYDRAMNIOS-RENAL DYSPLASIA-CEREBELLAR HYPOPLASIA-HYDRANENCEPHALY SYNDROME Is also known as hydranencephaly with renal aplasia-dysplasia|march syndrome

Related symptoms:

  • Flexion contracture
  • Talipes equinovarus
  • Syndactyly
  • Clinodactyly
  • Clinodactyly of the 5th finger


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MULTINUCLEATED NEURONS-ANHYDRAMNIOS-RENAL DYSPLASIA-CEREBELLAR HYPOPLASIA-HYDRANENCEPHALY SYNDROME

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Cerebellar hypoplasia

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Spasticity Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Cerebellar hypoplasia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Ventriculomegaly Delayed speech and language development Hydrocephalus Agenesis of corpus callosum Short stature

Rare Symptoms - Less than 30% cases


Generalized-onset seizure Partial agenesis of the corpus callosum Visual impairment Absent speech Tremor Focal-onset seizure Hypertelorism Ataxia Arthrogryposis multiplex congenita Agyria Micrognathia Cortical dysplasia Hydranencephaly Hypoplasia of the brainstem Abnormal cerebellum morphology Lissencephaly Hypoplasia of the corpus callosum Poor speech Intellectual disability, mild EEG abnormality Heterotopia Polymicrogyria Wide mouth Autistic behavior Neurological speech impairment Thick vermilion border Hypertrichosis Reduced tendon reflexes Stereotypy Hyporeflexia Developmental regression Focal segmental glomerulosclerosis Cerebral atrophy Macrotia Proteinuria Arachnodactyly Stage 5 chronic kidney disease Tapered finger Nephrotic syndrome Glomerulosclerosis Diffuse mesangial sclerosis Apnea Ptosis Motor delay Intellectual disability, severe Language impairment Hyperactivity Coarse facial features Abnormality of the nervous system Aggressive behavior Delayed gross motor development Areflexia Loss of consciousness Renal dysplasia Talipes Pulmonary hypoplasia Single transverse palmar crease Renal cyst Renal agenesis Oligohydramnios Renal hypoplasia Finger clinodactyly Polydactyly Microretrognathia 2-3 toe syndactyly Cystic hygroma Broad palm Redundant neck skin Narrow nasal ridge Limb joint contracture Potter facies Toe syndactyly Clinodactyly of the 5th finger Hyperventilation Myopathy Bruxism Impaired social interactions Unilateral ptosis Flared nostrils Progressive language deterioration Pain Short neck Respiratory failure Clinodactyly Hirsutism Full cheeks Lymphedema Centrally nucleated skeletal muscle fibers Hand clenching Flexion contracture Talipes equinovarus Syndactyly Feeding difficulties Prominent forehead Brisk reflexes Gait disturbance Large foramen magnum Muscle weakness Severe global developmental delay Aganglionic megacolon Adducted thumb Inferior vermis hypoplasia Behavioral abnormality Dysplastic corpus callosum Obesity Gliosis Truncal obesity Microphallus Cervical cord compression Increased body mass index Gray matter heterotopias Prelingual sensorineural hearing impairment Myoclonus Hearing impairment Polyhydramnios Brain atrophy Dandy-Walker malformation Holoprosencephaly Preeclampsia Severe hydrocephalus Sensorineural hearing impairment Cerebellar dysplasia Macrocephaly Dilatation Bilateral sensorineural hearing impairment Congenital sensorineural hearing impairment Severe sensorineural hearing impairment Arachnoid cyst Colpocephaly Strabismus Muscular hypotonia of the trunk Infantile muscular hypotonia Osteopenia Myopia Optic atrophy Anteverted nares Cerebellar atrophy Osteoporosis Gait ataxia Dysmetria Dysarthria Unsteady gait Inability to walk Hip dysplasia Narrow forehead Apraxia Status epilepticus Cerebral visual impairment Wide nasal bridge Hyperreflexia Abnormality of the cerebral white matter Absence seizures Tetraplegia Sepsis Febrile seizures Cerebellar vermis hypoplasia Pachygyria Postnatal microcephaly Spastic tetraparesis Cognitive impairment Focal impaired awareness seizure Abnormality of neuronal migration Progressive spasticity Mild global developmental delay Perivascular spaces Type I lissencephaly Nystagmus Ureteral agenesis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Delayed speech and language development and Skeletal dysplasia, related diseases and genetic alterations Macrocephaly and Sparse and thin eyebrow, related diseases and genetic alterations Epicanthus and Coarse facial features, related diseases and genetic alterations Cognitive impairment and Bradycardia, related diseases and genetic alterations Micrognathia and Melanoma, related diseases and genetic alterations

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