Tremor, and Short palpebral fissure

Diseases related with Tremor and Short palpebral fissure

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

Top matches:

X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature.

X-LINKED RETICULATE PIGMENTARY DISORDER Is also known as familial cutaneous amyloidosis|mental retardation, x-linked, with dystonic movements, ataxia, and seizures|pdr|mental retardation, x-linked, syndromic 1|x-linked cutaneous amyloidosis|xlpdr|mrx36|partington syndrome|partington disease|mrxs1|mental retarda

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED RETICULATE PIGMENTARY DISORDER

MICROPHTHALMIA, SYNDROMIC 12; MCOPS12 Is also known as microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MICROPHTHALMIA, SYNDROMIC 12; MCOPS12

MRXSB is an X-linked dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with behavioral abnormalities, and dysmorphic facial features. Additional variable features include musculoskeletal abnormalities, seizures, acquired microcephaly, and feeding problems with poor overall growth. Only females are affected (summary by Bain et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB

Other less relevant matches:

5p13 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes).

5P13 MICRODUPLICATION SYNDROME Is also known as dup(5)(p13)|trisomy 5p13

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about 5P13 MICRODUPLICATION SYNDROME

Low match TARP SYNDROME

TARP syndrome is a rare developmental defect during embryogenesis syndrome characterized by Robin sequence (micrognathia, glossoptosis, and cleft palate), atrial septal defect, persistence of the left superior vena cava, and talipes equinovarus. The phenotype is variable, some patients present with further dysmorphic characteristics (e.g. hypertelorism, ear abnormalities) while others do not have any key findings. Additional features, such as syndactyly, polydactyly, or brain anomalies (e.g. cerebellar hypoplasia), have also been reported. The syndrome is almost invariably lethal with affected males either dying prenatally or living just a few months.

TARP SYNDROME Is also known as pierre robin syndrome-congenital heart defect-talipes syndrome|pierre robin sequence-congenital heart defect-talipes syndrome|talipes equinovarus, atrial septal defect, robin sequence, and persistence of left superior vena cava|talipes equinovarus-atrial

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TARP SYNDROME

Wiedemann-Steiner syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by short stature, hypertrichosis cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long philtrum), developmental delay, and mild to moderate intellectual disability. It has a variable clinical phenotype with additional manifestations reported including muscular hypotonia, patent ductus arteriosus, small hands and feet, hypertrichosis on the back, behavioral difficulties, and seizures.

WIEDEMANN-STEINER SYNDROME Is also known as hairy elbows, short stature, facial dysmorphism, and developmental delay|hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WIEDEMANN-STEINER SYNDROME

DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.

DIGEORGE SYNDROME; DGS Is also known as hypoplasia of thymus and parathyroids|chromosome 22q11.2 deletion syndrome|third and fourth pharyngeal pouch syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about DIGEORGE SYNDROME; DGS

Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity.

BETA-MANNOSIDOSIS Is also known as beta-mannosidase deficiency|beta-mannosidosis|lysosomal beta-mannosidase deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BETA-MANNOSIDOSIS

Top 5 symptoms//phenotypes associated to Tremor and Short palpebral fissure

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Delayed speech and language development High palate Feeding difficulties Micrognathia Microcephaly Epicanthus Hyperactivity Aggressive behavior Attention deficit hyperactivity disorder Short philtrum Wide nasal bridge Brachycephaly Low-set ears Blepharophimosis Narrow palpebral fissure Spasticity Strabismus Muscular hypotonia Anxiety Behavioral abnormality Hearing impairment Long philtrum Failure to thrive Narrow mouth Scoliosis Short stature Stereotypy Recurrent infections Cognitive impairment Flexion contracture Cleft palate

Rare Symptoms - Less than 30% cases

Hydrocephalus Clinodactyly Pectus excavatum Abnormality of cardiovascular system morphology Atrial septal defect Intrauterine growth retardation Dystonia Low posterior hairline Immunodeficiency Exotropia Bulbous nose Astigmatism Craniosynostosis Intellectual disability, moderate Wide mouth Obsessive-compulsive behavior Abnormal heart morphology Microphthalmia Posteriorly rotated ears Macrotia Generalized tonic-clonic seizures High, narrow palate Thick eyebrow Neurological speech impairment Telecanthus Thin upper lip vermilion Dysarthria Hypotelorism Dilatation Dysphagia Ptosis Abnormal corpus callosum morphology Tetralogy of Fallot Round face Microtia Unsteady gait Hydronephrosis Hypertonia Chorea Absent speech Constipation Sparse hair Ataxia Retrognathia Cryptorchidism Gastroesophageal reflux Depressed nasal bridge Severe global developmental delay Ventricular septal defect Wide nose Spastic tetraparesis Truncus arteriosus Bipolar affective disorder Acne Aplasia of the uterus Inflammation of the large intestine Hypoplasia of the thymus Hypoplasia of the abdominal wall musculature Anterior segment developmental abnormality Autoimmune hemolytic anemia Autoimmune thrombocytopenia Seborrheic dermatitis Posterior embryotoxon Juvenile rheumatoid arthritis Sclerocornea Urinary glycosaminoglycan excretion Tetany Myelomeningocele Vitiligo Aspartylglucosaminuria Unilateral renal agenesis Tortuosity of conjunctival vessels Hypoparathyroidism Angiokeratoma corporis diffusum Phonic tics Meningocele Stridor Cholelithiasis Psoriasiform dermatitis Cleft lip Iris coloboma Polymicrogyria Increased urinary disaccharide excretion Autoimmunity Abnormality of the pinna Abnormality of the kidney Arthritis Bifid uvula Umbilical hernia Hypothyroidism Inguinal hernia Patent ductus arteriosus Obesity Thrombocytopenia Hemolytic anemia Renal agenesis Rheumatoid arthritis Hypocalcemia Angiokeratoma Nasal speech Arnold-Chiari malformation Schizophrenia Bicuspid aortic valve Purpura Spina bifida Specific learning disability Amblyopia Broad thumb Renal dysplasia Primary amenorrhea Coarctation of aorta Amenorrhea Graves disease Alcoholism Interrupted aortic arch Babinski sign Hand tremor Kinetic tremor Asthma Tics Nystagmus Muscle weakness Communicating hydrocephalus Peripheral neuropathy Skeletal muscle atrophy Ventriculomegaly Delayed ability to walk Proximal amyotrophy Cerebral atrophy Abnormality of metabolism/homeostasis Recurrent respiratory infections Waddling gait Neurodevelopmental delay Oligodontia Laryngomalacia Intention tremor Spastic tetraplegia Epileptic encephalopathy Impulsivity Lower limb muscle weakness Cerebral cortical atrophy Eosinophilia Hepatosplenomegaly Pendular nystagmus Microdontia Prominent nose Myopathic facies Self-mutilation Hypodontia Perimembranous ventricular septal defect Thenar muscle atrophy Femoral hernia Hypsarrhythmia Right aortic arch Impaired T cell function Perisylvian polymicrogyria Duodenal stenosis Retinal vascular tortuosity Abnormality of the middle ear Abnormality of the thymus Vascular tortuosity Conotruncal defect Aplasia of the thymus Arteria lusoria Right aortic arch with mirror image branching Subcortical cerebral atrophy Small hand Myopia Inability to walk Poor speech Mandibular prognathia Demyelinating peripheral neuropathy Hypermetropia Abnormality of the dentition Intellectual disability, severe Esophoria Type I truncus arteriosus Parathyroid agenesis Parathyroid hypoplasia Decreased circulating parathyroid hormone level Sacral meningocele Accommodative esotropia Narrow palate Flat face Hypoplasia of the corpus callosum Overweight Postnatal microcephaly Self-injurious behavior Macrocephaly Frontal bossing Agenesis of corpus callosum Upslanted palpebral fissure Proptosis Broad forehead Small for gestational age Arachnodactyly Sleep disturbance Narrow forehead Large hands Long fingers Turricephaly Underdeveloped nasal alae Long foot Optic atrophy Talipes equinovarus Anteverted nares Syndactyly Cerebellar hypoplasia Polydactyly Respiratory failure Toe syndactyly Talipes Hepatic failure Postaxial polydactyly Single transverse palmar crease Cerebellar vermis hypoplasia Thick lower lip vermilion Abnormal cerebellum morphology Horseshoe kidney Pulmonary hypoplasia EEG abnormality Rigidity Triangular face Lower limb spasticity Lissencephaly Infantile spasms Limb dystonia Focal dystonia Cogwheel rigidity Hydranencephaly Stuttering Grasp reflex Hernia Muscular hypotonia of the trunk Broad nasal tip Thick vermilion border Autism Pectus carinatum Autistic behavior Hyperlordosis Developmental regression Joint laxity Pes planus Gait ataxia Congenital diaphragmatic hernia Gait disturbance Hypoplastic left atrium Bicornuate uterus Anophthalmia Short chin Tetraparesis Large fontanelles Cutaneous syndactyly Short neck Abnormality of the elbow Long eyelashes Rhizomelia Short toe Generalized hirsutism Finger clinodactyly Accelerated skeletal maturation Sacral dimple Infantile muscular hypotonia Delayed gross motor development Abnormality of the hand Bilateral ptosis Short middle phalanx of finger Narrow nasal bridge Narrow nose Depressed nasal tip Hypertrichosis Aplasia/Hypoplasia of the ribs Fever Anemia Neoplasm Elbow hypertrichosis Dilatation of renal calices Hyperextensibility at elbow Small forehead Short attention span Congenital, generalized hypertrichosis Low frustration tolerance Asymmetry of the thorax Anteverted ears Psychomotor deterioration Broad philtrum Broad-based gait Growth hormone deficiency Optic nerve hypoplasia Cerebellar hemorrhage Hypoplasia of the radius Athetosis 2-3 toe syndactyly Absent septum pellucidum Underdeveloped supraorbital ridges Glossoptosis Pierre-Robin sequence Abnormal hair pattern Cleft soft palate Deep palmar crease Short sternum Persistent left superior vena cava Prominent antihelix Tongue nodules Growth delay Webbed neck Dolichocephaly Tapered finger Highly arched eyebrow Hirsutism Thin vermilion border Facial asymmetry Synophrys Postnatal growth retardation Downslanted palpebral fissures High forehead Prominent forehead Clinodactyly of the 5th finger Delayed skeletal maturation Short nose Intellectual disability, mild Thin eyebrow


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