Abnormal facial shape, and Abnormal cerebellum morphology

Diseases related with Abnormal facial shape and Abnormal cerebellum morphology

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


Top matches:

Low match CHUDLEY-MCCULLOUGH SYNDROME; CMCS

Chudley-McCullough syndrome is an autosomal recessive neurologic disorder characterized by early-onset sensorineural deafness and specific brain anomalies on MRI, including hypoplasia of the corpus callosum, enlarged cysterna magna with mild focal cerebellar dysplasia, and nodular heterotopia. Some patients have hydrocephalus. Psychomotor development is normal (summary by Alrashdi et al., 2011).

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

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment


SOURCES: MONDO OMIM GARD MESH UMLS ORPHANET

More info about CHUDLEY-MCCULLOUGH SYNDROME; CMCS

Low match MENTAL RETARDATION, X-LINKED 12; MRX12

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.

MENTAL RETARDATION, X-LINKED 12; MRX12 Is also known as mental retardation, x-linked 35;mrx35;

Related symptoms:

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


SOURCES: ORPHANET MONDO UMLS OMIM

More info about MENTAL RETARDATION, X-LINKED 12; MRX12

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 sequence, isolated;ils, lissencephaly, classic

Related symptoms:

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


SOURCES: ORPHANET OMIM

More info about LISSENCEPHALY 1; LIS1

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Other less relevant matches:

Low match NEPHRONOPHTHISIS 15; NPHP15

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Nystagmus
  • Abnormal facial shape


SOURCES: UMLS OMIM DOID MONDO

More info about NEPHRONOPHTHISIS 15; NPHP15

Low match AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL; CAMT

Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare disorder expressed in infancy and characterized by isolated thrombocytopenia and megakaryocytopenia with no physical anomalies (Muraoka et al., 1997).King et al. (2005) proposed a new classification of CAMT based on the course and outcome of the disease, as exemplified by 20 patients: CAMT type I (11 patients) was characterized by early onset of severe pancytopenia, decreased bone marrow activity, and very low platelet counts. CAMT type II (9 patients) was somewhat milder and characterized by transient increases of platelet counts up to nearly normal values during the first year of life and an onset of bone marrow failure at age 3 or later.

AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL; CAMT Is also known as ;camt; congenital amegakaryocytic thrombocytopenic purpura

Related symptoms:

  • Autosomal recessive inheritance
  • Short stature
  • Scoliosis
  • Anemia
  • Short neck


SOURCES: ORPHANET NCIT UMLS DOID MESH OMIM SCTID GARD MONDO

More info about AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL; CAMT

Low match JOUBERT SYNDROME 9; JBTS9

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Nystagmus
  • Abnormal facial shape


SOURCES: OMIM

More info about JOUBERT SYNDROME 9; JBTS9

Low match SALLA DISEASE; SD

Sialic acid storage diseases are autosomal recessive neurodegenerative disorders that may present as a severe infantile form (ISSD) or as a slowly progressive adult form that is prevalent in Finland (Salla disease). The main symptoms are hypotonia, cerebellar ataxia, and mental retardation; visceromegaly and coarse features are also present in the infantile cases. Progressive cerebellar atrophy and dysmyelination have been documented by MRI. Enlarged lysosomes are seen on electron microscopic studies, and patients excrete large amounts of free sialic acid in the urine (Verheijen et al., 1999).

SALLA DISEASE; SD Is also known as sialuria, finnish type;

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: ORPHANET OMIM UMLS MONDO SCTID GARD NCIT

More info about SALLA DISEASE; SD

Low match CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED

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.

CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED Is also known as ;

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Motor delay


SOURCES: GARD OMIM ORPHANET UMLS MESH MONDO

More info about CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED

Low match EPISODIC ATAXIA TYPE 1

Episodic ataxia type 1 (EA1) is a frequent form of Hereditary episodic ataxia (EA; see this term) characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia.

EPISODIC ATAXIA TYPE 1 Is also known as episodic ataxia with myokymia

Related symptoms:

  • Scoliosis
  • Motor delay
  • Delayed speech and language development
  • Dysarthria
  • Cerebellar atrophy


SOURCES: ORPHANET

More info about EPISODIC ATAXIA TYPE 1

Low match DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION; DDCH

Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome is a rare genetic neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy).

DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION; DDCH Is also known as ;

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET

More info about DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION; DDCH

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Abnormal cerebellum morphology

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Autosomal recessive inheritance Uncommon - Between 30% and 50% cases
Motor delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Ventriculomegaly Cerebellar vermis hypoplasia Cerebellar hypoplasia Nystagmus X-linked recessive inheritance Delayed speech and language development Generalized hypotonia Cerebellar atrophy Spasticity Agenesis of corpus callosum Hydrocephalus

Rare Symptoms - Less than 30% cases


Scoliosis Hearing impairment Obesity Clumsiness Severe global developmental delay Coarse facial features Sensorineural hearing impairment Spastic tetraparesis Short stature Abnormality of eye movement Dystonia Intellectual disability, mild Intellectual disability, severe Dysarthria Strabismus Tetraplegia Heterotopia Elevated hepatic transaminase Partial agenesis of the corpus callosum Vacuolated lymphocytes Muscle weakness Thickened calvaria Absent speech Oligosacchariduria Exotropia Aspartylglucosaminuria Rigidity Inability to walk Ataxia Retinal dystrophy Encephalocele Hepatic fibrosis Cephalocele Molar tooth sign on MRI Pica Growth delay Athetosis Muscular hypotonia Abnormality of the skeletal system Abnormality of metabolism/homeostasis Aganglionic megacolon Progressive cerebellar ataxia Tetraparesis X-linked inheritance Muscle cramps Adducted thumb Hyperactivity Craniofacial disproportion Failure to thrive Intrauterine growth retardation Optic atrophy Cerebral atrophy Cerebral cortical atrophy Aggressive behavior Hand clenching Abnormal pyramidal sign Brain atrophy CNS hypomyelination Episodic fever Corpus callosum atrophy Cerebral hypomyelination Congenital strabismus Tip-toe gait Poor coordination Dislocated radial head Vertigo Inferior vermis hypoplasia Hypertonia Respiratory distress Headache Hyperhidrosis Kyphoscoliosis Postural instability Specific learning disability Myokymia Choreoathetosis Nausea Diplopia Muscle stiffness Calf muscle hypertrophy Myotonia Blurred vision Astigmatism Pancytopenia Coloboma Myoclonus Tremor Behavioral abnormality Gliosis Truncal obesity Microphallus Cervical cord compression Muscular hypotonia of the trunk Large foramen magnum Sporadic Abnormality of the cerebral white matter Sepsis Focal seizures Febrile seizures Gait disturbance Gray matter heterotopias Postnatal microcephaly Bilateral sensorineural hearing impairment Macrocephaly Hypoplasia of the corpus callosum Dilatation Oxycephaly Skin rash Polymicrogyria Cortical dysplasia Dysplastic corpus callosum Congenital sensorineural hearing impairment Arachnoid cyst Severe sensorineural hearing impairment Cerebellar dysplasia Colpocephaly Prelingual sensorineural hearing impairment Pachygyria Absence seizures Abnormality of the eye Abnormal hemoglobin Neutropenia Abnormal form of the vertebral bodies Bone marrow hypocellularity Melanocytic nevus Thrombocytosis Decreased skull ossification Amegakaryocytic thrombocytopenia Thrombocytopenia Megakaryocytopenia Cataract Splenomegaly Rod-cone dystrophy Intellectual disability, moderate Hepatosplenomegaly Abnormal cardiac septum morphology Short neck Lissencephaly Blindness Focal seizures with impairment of consciousness or awareness Hypoplasia of the brainstem Progressive spasticity Mild global developmental delay Perivascular spaces Type I lissencephaly Polydactyly Anemia Retinal degeneration Abnormality of the liver Hepatic failure Bronchiectasis Nephronophthisis Congenital blindness Cerebral white matter atrophy



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Microphthalmia and Abnormality of the genital system, related diseases and genetic alterations Melanoma and Carious teeth, related diseases and genetic alterations Hydrocephalus and Bulbous nose, related diseases and genetic alterations Depressed nasal bridge and Arthralgia, related diseases and genetic alterations Myopathy and Falls, related diseases and genetic alterations