Tremor, and Short neck

Diseases related with Tremor and Short neck

In the following list you will find some of the most common rare diseases related to Tremor and Short neck that can help you solving undiagnosed cases.


Top matches:

Medium match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42


Autosomal recessive mental retardation-42 is a neurodevelopmental disorder characterized by severely delayed psychomotor development. Additional features are variable and include nonspecific dysmorphic facial features, hypotonia, structural brain abnormalities, and cortical visual impairment (summary by Bosch et al., 2015). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42 Is also known as glycosylphosphatidylinositol biosynthesis defect 9|gpibd9

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42

Medium match FG SYNDROME 4; FGS4


FG syndrome-4 is an X-linked recessive mental retardation syndrome characterized by congenital hypotonia, constipation, behavioral disturbances, and dysmorphic features (summary by Piluso et al., 2003).The name 'FG' derives from the first description of the disorder (FGS1 ) by Opitz and Kaveggia (1974), who named it 'FG syndrome' according to the Opitz system of using initials of patients' surnames. For a phenotypic description and a discussion of genetic heterogeneity of FG syndrome, see FGS1 (OMIM ).FGS4 is typically associated with missense or hypomorphic mutations in the CASK gene. See also the more severe disorder MICPCH (OMIM ), an allelic disorder caused by complete loss-of-function mutations in the CASK gene (Tarpey et al., 2009).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about FG SYNDROME 4; FGS4

Medium match PERRAULT SYNDROME


Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit.

PERRAULT SYNDROME Is also known as ovarian dysgenesis with sensorineural deafness|gonadal dysgenesis, xx type, with deafness|xx gonodal dysgenesis-deafness syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PERRAULT SYNDROME

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Other less relevant matches:

Medium match X-LINKED INTELLECTUAL DISABILITY-PSYCHOSIS-MACROORCHIDISM SYNDROME


X-linked intellectual disability-psychosis-macroorchidism syndrome is characterised by the association of moderate intellectual deficit with manic-depressive psychosis, pyramidal signs and macroorchidism. It has been described in 10 males. The syndrome is transmitted as an X-linked trait and has been associated with a mutation in the MECP2 gene, localised to segment 28 of the long arm of the X chromosome (Xq28).

X-LINKED INTELLECTUAL DISABILITY-PSYCHOSIS-MACROORCHIDISM SYNDROME Is also known as lindsay-burn syndrome|mental retardation, x-linked 79|mrx79|ppmx|mental retardation, x-linked, with spasticity|mrx16|ppm-x|mental retardation with psychosis, pyramidal signs, and macroorchidism|mental retardation, x-linked 16

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-PSYCHOSIS-MACROORCHIDISM SYNDROME

Medium match X-LINKED INTELLECTUAL DISABILITY-GLOBAL DEVELOPMENT DELAY-FACIAL DYSMORPHISM-SACRAL CAUDAL REMNANT SYNDROME


X-linked syndromic mental retardation-33 is an X-linked recessive neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, and characteristic facial features (summary by O'Rawe et al., 2015).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-GLOBAL DEVELOPMENT DELAY-FACIAL DYSMORPHISM-SACRAL CAUDAL REMNANT SYNDROME

Medium match ACROCEPHALOPOLYDACTYLOUS DYSPLASIA


Acrocephalopolydactylous dysplasia, or Elejalde syndrome, is a lethal multiple congenital disorder characterized by increased birth weight, globular body with thick skin, organomegaly, and fibrosis in multiple tissues (summary by Phadke et al., 2011).

ACROCEPHALOPOLYDACTYLOUS DYSPLASIA Is also known as elejalde syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about ACROCEPHALOPOLYDACTYLOUS DYSPLASIA

Medium match ALEXANDER DISEASE; ALXDRD


In decreasing order of frequency, 3 forms of Alexander disease are recognized, based on age of onset: infantile, juvenile, and adult. Younger patients typically present with seizures, megalencephaly, developmental delay, and spasticity. In older patients, bulbar or pseudobulbar symptoms predominate, frequently accompanied by spasticity. The disease is progressive, with most patients dying within 10 years of onset. Imaging studies of the brain typically show cerebral white matter abnormalities, preferentially affecting the frontal region (Gorospe et al., 2002). All 3 forms have been shown to be caused by mutations in the GFAP gene.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALEXANDER DISEASE; ALXDRD

Medium match MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME


Multiple congenital anomalies-hypotonia-seizures syndrome is an autosomal recessive disorder characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems. Most affected individuals die before 3 years of age (summary by Maydan et al., 2011). The disorder is caused by a defect in glycosylphosphatidylinositol biosynthesis; see GPIBD1 (OMIM ). Genetic Heterogeneity of Multiple Congenital Anomalies-Hypotonia-Seizures SyndromeMCAHS2 (OMIM ) is caused by mutation in the PIGA gene (OMIM ) on chromosome Xp22, and MCAHS3 (OMIM ) is caused by mutation in the PIGT gene (OMIM ) on chromosome 20q13.Knaus et al. (2018) provided a review of the main clinical features of the different types of MCAHS, noting that patients with mutations in the PIGN, PIGA, and PIGT genes have distinct patterns of facial anomalies that can be detected by computer-assisted comparison. Some individuals with MCAHS may have variable increases in alkaline phosphatase (AP) as well as variable decreases in GPI-linked proteins that can be detected by flow cytometry. However, there was no clear correlation between AP levels or GPI-linked protein abnormalities and degree of neurologic involvement, mutation class, or gene involved. Knaus et al. (2018) concluded that a distinction between MCAHS and HPMRS1 (OMIM ), which is also caused by mutation in genes involved in GPI biosynthesis, may be artificial and even inaccurate, and that all these disorders should be considered and classified together under the more encompassing term of 'GPI biosynthesis defects' (GPIBD).

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME Is also known as congenital disorder of glycosylation due to pign deficiency|glycosylphosphatidylinositol biosynthesis defect 3|pign-cdg|gpibd3

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME

Medium match X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE


X-linked intellectual disability, Cabezas type is characterised by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localised to the q24-q25 region of the X chromosome.

X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE Is also known as cabezas syndrome|mrss|mrxs15|mental retardation, x-linked, with short stature|mental retardation, x-linked, with short stature, hypogonadism, and abnormal gait|mental retardation, x-linked, syndromic 15

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE

Medium match CEREBROFACIOTHORACIC DYSPLASIA


Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities.

CEREBROFACIOTHORACIC DYSPLASIA Is also known as pascual-castroviejo syndrome type 1|cerebrofaciothoracic dysplasia

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CEREBROFACIOTHORACIC DYSPLASIA

Top 5 symptoms//phenotypes associated to Tremor and Short neck

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Tremor and Short neck. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Nystagmus

Uncommon Symptoms - Between 30% and 50% cases


High palate

Common Symptoms - More than 50% cases


Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases


Macrocephaly

Common Symptoms - More than 50% cases


Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases


Spasticity

Common Symptoms - More than 50% cases


Microcephaly

Uncommon Symptoms - Between 30% and 50% cases


Growth delay Strabismus Ataxia Upslanted palpebral fissure Cerebellar hypoplasia Absent speech Short stature Micrognathia Hypoplasia of the corpus callosum Ventriculomegaly Synophrys Motor delay Low-set ears Hyperreflexia Hyporeflexia Macrotia Kyphosis Neonatal hypotonia Muscular hypotonia Epicanthus Wide mouth Long philtrum Anteverted nares Delayed speech and language development Gait disturbance Pes cavus Intellectual disability, mild Ptosis EEG abnormality Brachydactyly Gait ataxia Cerebellar atrophy Downslanted palpebral fissures Constipation Muscular hypotonia of the trunk Prominent forehead Short nose Polyhydramnios Cerebellar vermis hypoplasia Joint hypermobility Hearing impairment Depressed nasal bridge Abnormality of the pinna Hypertonia

Rare Symptoms - Less than 30% cases


Dystonia Coarse facial features Muscle stiffness Abnormal hair pattern Choreoathetosis Short foot Pes planus Hemivertebrae Flat face Small hand Tetraplegia Intellectual disability, severe Hydronephrosis Cystic hygroma Inguinal hernia Vesicoureteral reflux Abnormal pyramidal sign Oral-pharyngeal dysphagia Cleft lip Craniosynostosis Poor coordination Narrow forehead Abnormality of eye movement Anal atresia Brachycephaly Postnatal growth retardation Anxiety Pulmonary hypoplasia Osteopenia Gastroesophageal reflux Pectus excavatum Dysphagia Intrauterine growth retardation Progressive spasticity Myopia Bulbous nose Intention tremor Postaxial hand polydactyly Respiratory failure Sacral dimple Cryptorchidism Attention deficit hyperactivity disorder Restlessness Rib fusion Mandibular prognathia Posteriorly rotated ears Behavioral abnormality Talipes equinovarus Dysarthria Patent ductus arteriosus Relative macrocephaly Open mouth Neurological speech impairment Unsteady gait Aggressive behavior Hyperactivity Midface retrusion Wide nasal bridge Hyperhidrosis Sensorineural hearing impairment Delayed myelination Brain atrophy Highly arched eyebrow Paraplegia Spastic paraplegia Deeply set eye Agenesis of corpus callosum Cerebral atrophy Abnormality of the dentition Hypothyroidism Cognitive impairment Amenorrhea Dysmetria Frontal bossing Feeding difficulties Delayed puberty Hernia Spastic diplegia Cleft palate Atrial septal defect Hyperpigmented nevi Limb hypertonia Hypothermia Hydrocele testis Recurrent singultus Dysphonia Encephalitis Precocious puberty Sleep apnea Leukoencephalopathy Vertical nystagmus Hoarse cry Hypogonadism Prominent nasal bridge Large fleshy ears Diffuse demyelination of the cerebral white matter Skeletal muscle atrophy Splenomegaly Immunodeficiency Obesity Hypospadias Abnormal autonomic nervous system physiology Clinodactyly of the 5th finger Abnormal cardiac septum morphology Anal stenosis Progressive macrocephaly Cupped ear Megalencephaly Congenital diaphragmatic hernia Increased CSF protein Drowsiness Amblyopia Tented upper lip vermilion Bulbar signs Abnormality of the urinary system Patent foramen ovale Focal impaired awareness seizure Overfolded helix Aqueductal stenosis Pseudobulbar signs Atrophy/Degeneration affecting the brainstem Hypersomnia Muscle fibrillation Short distal phalanx of finger Bowel incontinence Dysphasia Thin vermilion border Prominent occiput Emotional lability Large face Self-injurious behavior Focal-onset seizure Microcoria Cortical dysplasia Micropenis Hypoplasia of the maxilla Tall stature Long eyelashes Low posterior hairline Abnormality of the ribs Decreased fetal movement Renal agenesis Wide intermamillary distance Growth hormone deficiency Wide nose Sparse and thin eyebrow Thick eyebrow Oral cleft Cleft upper lip Talipes Narrow chest Pectus carinatum Abnormality of the kidney Low-set, posteriorly rotated ears Gingival overgrowth Low anterior hairline Abnormality of toe Beaking of vertebral bodies Bifid ribs Exodeviation Poliosis Bull's eye maculopathy Hyperextensibility of the finger joints Broad philtrum Conical tooth Rectovaginal fistula Self-mutilation Sparse eyelashes Sprengel anomaly Shawl scrotum Vertebral fusion Vertebral segmentation defect Neurodevelopmental delay Supernumerary nipple Overlapping toe Large for gestational age Coarse hair Cerebral cortical atrophy Moderately short stature High forehead Macroglossia Short thumb Broad-based gait Thick lower lip vermilion Interphalangeal joint contracture of finger Hypoplasia of penis Decreased testicular size Memory impairment Prominent nose Short palm Narrow palpebral fissure Polymicrogyria Joint hyperflexibility Toe syndactyly Short philtrum Camptodactyly of finger Blepharophimosis Intellectual disability, moderate Joint laxity Gynecomastia Sandal gap Mood swings Striae distensae Small earlobe Abnormality of earlobe Abdominal obesity Panhypopituitarism Tics Distal lower limb amyotrophy Down-sloping shoulders Scaphocephaly Biparietal narrowing Acanthosis nigricans Cerebellar vermis atrophy Abnormality of the musculature Truncal obesity Cortical gyral simplification Clonus Open bite Large hands Cubitus valgus Cachexia Leukodystrophy Depressed nasal ridge Diplopia Psychosis Facial hypotonia Drooling Spastic paraparesis Paraparesis Spastic gait Postnatal microcephaly Clumsiness Spastic tetraplegia Bruxism Apraxia Abnormality of extrapyramidal motor function Parkinsonism Genu valgum Pneumonia Babinski sign Encephalopathy Macroorchidism Shuffling gait Cataract Long face Microretrognathia Pointed chin Eczema Hip dysplasia Broad nasal tip High, narrow palate Hirsutism Sparse hair Slender build Autistic behavior Protruding ear Thin upper lip vermilion Proptosis Juvenile cataract Mania Progressive spastic paraparesis Excessive salivation Flexion contracture Internuclear ophthalmoplegia Delayed gross motor development Bilateral sensorineural hearing impairment Osteoporosis Rod-cone dystrophy Areflexia Peripheral neuropathy Frontal upsweep of hair Pachygyria Intellectual disability, profound Feeding difficulties in infancy Mental deterioration Reduced visual acuity Abnormal hand morphology Abnormal electroretinogram Cerebral visual impairment Retinal dystrophy Poor speech Visual impairment Abnormality of the nervous system Ophthalmoplegia Limited extraocular movements Gonadal dysgenesis Progressive peripheral neuropathy Titubation Decreased serum testosterone level Amelogenesis imperfecta Retinal atrophy Increased circulating gonadotropin level Severe sensorineural hearing impairment Secondary amenorrhea Infertility Hammertoe Bilateral ptosis Hyperkinesis Sensorimotor neuropathy Primary amenorrhea Polyneuropathy Sensory neuropathy Peripheral axonal neuropathy Reduced tendon reflexes Prominent supraorbital ridges Cerebral calcification Abnormality of the cerebellar vermis Failure to thrive Extrapulmonary sequestrum Hypoplastic colon Hypoplasia of the small intestine Aplasia/Hypoplasia of the macula Cerebral cortical hemiatrophy Pancreatic fibrosis Lymphangioma Hypertension Subcortical cerebral atrophy Oxycephaly Cystic renal dysplasia Polysplenia Broad neck Enlarged kidney Protuberant abdomen Muscle weakness Respiratory insufficiency Macular dystrophy Abnormality of the cerebral white matter Peripheral demyelination Hypotension Chorea Gliosis Sudden cardiac death Sleep disturbance Nausea and vomiting Cough Hydrocephalus Hyperlordosis Developmental regression Facial palsy Weight loss Diabetes mellitus Dementia Depressivity Vomiting Generalized hyperpigmentation Premature graying of hair Chronic otitis media Sleep-wake cycle disturbance Abnormality of the septum pellucidum Talipes cavus equinovarus Prominent protruding coccyx Broad chin Thickened ears Prominent coccyx Caesarian section Short digit Optic atrophy Toenail dysplasia Nasolacrimal duct obstruction Thickened helices Gait imbalance Depressed nasal tip Aplasia cutis congenita Flat occiput Hepatomegaly Edema Redundant skin Renal hypoplasia Multicystic kidney dysplasia Hydrops fetalis Hepatic fibrosis Thickened skin Abnormality of the face Renal dysplasia Omphalocele Limb undergrowth Abnormality of cardiovascular system morphology Specific learning disability Ascites Hypopigmentation of the skin Postaxial polydactyly Micromelia Rigidity Polydactyly Recurrent respiratory infections Microdontia of primary teeth



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