Tremor, and Postaxial polydactyly

Diseases related with Tremor and Postaxial polydactyly

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

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Joubert syndrome is a clinically and genetically heterogeneous group of disorders characterized by hypoplasia of the cerebellar vermis with the characteristic neuroradiologic 'molar tooth sign,' and accompanying neurologic symptoms, including dysregulation of breathing pattern and developmental delay. Other variable features include retinal dystrophy and renal anomalies (Saraiva and Baraitser, 1992; Valente et al., 2005). Genetic Heterogeneity of Joubert SyndromeSee also JBTS2 (OMIM ), caused by mutation in the TMEM216 gene (OMIM ) on chromosome 11q13; JBTS3 (OMIM ), caused by mutation in the AHI1 gene (OMIM ) on chromosome 6q23; JBTS4 (OMIM ), caused by mutation in the NPHP1 gene (OMIM ) on chromosome 2q13; JBTS5 (OMIM ), caused by mutation in the CEP290 gene, also called NPHP6 (OMIM ), on chromosome 12q21.32; JBTS6 (OMIM ), caused by mutation in the TMEM67 gene (OMIM ) on chromosome 8q21; JBTS7 (OMIM ), caused by mutation in the RPGRIP1L gene (OMIM ) on chromosome 16q12.2; JBTS8 (OMIM ), caused by mutation in the ARL13B (OMIM ) on chromosome 3q11.2; JBTS9 (OMIM ), caused by mutation in the CC2D2A gene (OMIM ) on chromosome 4p15.3; JBTS10 (OMIM ), caused by mutation in the CXORF5 gene (OMIM ) on chromosome Xp22.3; JBTS11 (see {613820}), caused by mutation in the TTC21B gene (OMIM ) on chromosome 2q24; JBTS12 (see {200990}), caused by mutation in the KIF7 gene (OMIM ) on chromosome 15q26; JBTS13 (OMIM ), caused by mutation in the TCTN1 gene (OMIM ) on chromosome 12q24; JBTS14 (OMIM ), caused by mutation in the TMEM237 gene (OMIM ) on chromosome 2q33; JBTS15 (OMIM ), caused by mutation in the CEP41 gene (OMIM ) on chromosome 7q32; JBTS16 (OMIM ), caused by mutation in the TMEM138 gene (OMIM ) on chromosome 11q; JBTS17 (OMIM ), caused by mutation in the C5ORF42 gene (OMIM ) on chromosome 5p13; JBTS18 (OMIM ), caused by mutation in the TCTN3 gene (OMIM ) on chromosome 10q24; JBTS19 (see {614844}), caused by mutation in the ZNF423 gene (OMIM ) on chromosome 16q12; JBTS20 (OMIM ), caused by mutation in the TMEM231 gene (OMIM ) on chromosome 16q23; JBTS21 (OMIM ), caused by mutation in the CSPP1 gene (OMIM ) on chromosome 8q13; JBTS22 (OMIM ), caused by mutation in the PDE6D gene (OMIM ) on chromosome 2q37; JBTS23 (OMIM ), caused by mutation in the KIAA0586 gene (OMIM ) on chromosome 14q23; JBTS24 (OMIM ), caused by mutation in the TCTN2 gene (OMIM ) on chromosome 12q24; JBTS25 (OMIM ), caused by mutation in the CEP104 gene (OMIM ) on chromosome 1p36; JBTS26 (OMIM ), caused by mutation in the KIAA0556 gene (OMIM ) on chromosome 16p12; JBTS27 (OMIM ), caused by mutation in the B9D1 gene (OMIM ) on chromosome 17p11; JBTS28 (OMIM ), caused by mutation in the MKS1 gene (OMIM ) on chromosome 17q23; JBTS29 (see {617562}), caused by mutation in the TMEM107 gene (OMIM ) on chromosome 17p13; JBTS30 (OMIM ), caused by mutation in the ARMC9 gene (OMIM ) on chromosome 2q37; JBTS31 (OMIM ), caused by mutation in the CEP120 gene (OMIM ) on chromosome 5q23; JBTS32 (OMIM ), caused by mutation in the SUFU gene (OMIM ) on chromosome 10q24; and JBTS33 (OMIM ), caused by mutation in the PIBF1 gene (OMIM ) on chromosome 13q21.

JOUBERT SYNDROME 1; JBTS1 Is also known as cerebelloparenchymal disorder iv|jbts|cpd4|joubert syndrome|cerebellooculorenal syndrome 1|cors1|joubert-boltshauser syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 1; JBTS1

Orofaciodigital syndrome type I (OFD1) is characterized by malformations of the face, oral cavity, and digits and is transmitted as an X-linked dominant condition with lethality in males. Thickened alveolar ridges and abnormal dentition, including absent lateral incisors, are additional characteristics of OFD1. The central nervous system may also be involved in as many as 40% of cases. Although these clinical features overlap those reported in other forms of orofaciodigital syndrome, OFD1 can be easily distinguished from among these by its X-linked dominant inheritance pattern and by polycystic kidney disease, which seems to be specific to type I (summary by Ferrante et al., 2001).Since the CXORF5 gene localizes to the centrosome and basal body of primary cilia, OFD1 is considered to be a ciliopathy (Chetty-John et al., 2010).

OROFACIODIGITAL SYNDROME I; OFD1 Is also known as oral-facial-digital syndrome, type i|papillon-leage and psaume syndrome|ofds i

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME I; OFD1

Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females.

OROFACIODIGITAL SYNDROME TYPE 1 Is also known as ofd1|papillon-lÉage-psaume syndrome|ofdsi|oral-facial-digital syndrome type 1|ofdi

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 1

Other less relevant matches:

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

Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).

JOUBERT SYNDROME WITH HEPATIC DEFECT Is also known as coach syndrome|cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis|cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis|js-h|joubert syndrome with congenital hepatic fibro

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about JOUBERT SYNDROME WITH HEPATIC DEFECT

Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.

OROFACIODIGITAL SYNDROME TYPE 6 Is also known as vÁradi syndrome|polydactyly-cleft lip/palate-psychomotor retardation syndrome|polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation|vÁradi-papp syndrome|joubert syndrome with orofaciodigital defect|oral-facial-digital syndrome type 6|

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 6

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

Autosomal dominant spastic paraplegia type 3 is a rare, pure or complex subtype of hereditary spastic paraplegia, with highly variable phenotype, typically characterized by childhood-onset of minimally progressive, bilateral, mainly symmetric lower limb spasticity and weakness, associated with pes cavus, diminished vibration sense, sphincter disturbances and/or urinary bladder hyperactivity. Additional associated manifestations may include scoliosis, mild intellectual disability, optic atrophy, axonal motor neuropathy and/or distal amyotrophy.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 3 Is also known as strÜmpell disease

Related symptoms:

  • Global developmental delay
  • Ataxia
  • Growth delay
  • Cataract
  • Cognitive impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 3

EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6; FAME6 Is also known as cortical myoclonic tremor with epilepsy, familial, 6|benign adult familial myoclonic epilepsy 6|fcmte6|bafme6

Related symptoms:

  • Seizures
  • Tremor


SOURCES: OMIM MENDELIAN

More info about EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6; FAME6

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

Top 5 symptoms//phenotypes associated to Tremor and Postaxial polydactyly

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Polydactyly Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Tremor and Postaxial polydactyly. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases

Ataxia

Common Symptoms - More than 50% cases

Micrognathia

Uncommon Symptoms - Between 30% and 50% cases

Abnormality of the kidney

Common Symptoms - More than 50% cases

Epicanthus

Uncommon Symptoms - Between 30% and 50% cases

Cerebellar vermis hypoplasia Cleft palate High palate Postaxial hand polydactyly Muscular hypotonia Generalized hypotonia Frontal bossing Downslanted palpebral fissures Wide nasal bridge Brachydactyly Highly arched eyebrow Agenesis of corpus callosum Oral cleft Growth delay Molar tooth sign on MRI Hepatic fibrosis Dilatation Tongue nodules Cerebellar hypoplasia Anteverted nares Absent speech Renal dysplasia Ptosis Syndactyly Renal insufficiency Gait disturbance Posteriorly rotated ears Apnea Multicystic kidney dysplasia Abnormal facial shape Long face Hydronephrosis Hypertension Telecanthus Hearing impairment Short stature Lobulated tongue Clinodactyly Prominent nasal bridge Macrocephaly Dandy-Walker malformation Nystagmus Cleft lip Apraxia Cryptorchidism Inguinal hernia Abnormal heart morphology Oculomotor apraxia Strabismus

Rare Symptoms - Less than 30% cases

Median cleft lip Pancreatic cysts Nephronophthisis Motor delay Abnormality of the nervous system Deviation of finger Abnormality of the pancreas Cutaneous syndactyly Scoliosis Milia Polycystic kidney dysplasia Radial deviation of finger Intellectual disability, severe Rib fusion Talipes equinovarus Accessory oral frenulum Rigidity Polyhydramnios Respiratory failure Upslanted palpebral fissure Abnormality of cardiovascular system morphology Short nose Short neck Optic atrophy Hepatomegaly Spasticity Talipes Hamartoma of tongue Foot polydactyly Hypothalamic hamartoma Hemivertebrae Preaxial hand polydactyly Hand polydactyly Macular dystrophy Coarse hair Abnormality of the face Elevated hepatic transaminase Abnormal hair pattern Feeding difficulties in infancy Cystic renal dysplasia Pectus excavatum Atrial septal defect Underdeveloped nasal alae Craniosynostosis Abnormal cerebellum morphology Cleft upper lip Round face Abnormality of the eye Toe syndactyly Coloboma Tachypnea Chorioretinal coloboma Aplasia/Hypoplasia of the corpus callosum Occipital encephalocele Encephalocele Episodic tachypnea Abnormality of neuronal migration Self-mutilation Cognitive impairment Biparietal narrowing Renal agenesis Optic nerve coloboma Abnormal pattern of respiration Mandibular prognathia Microcephaly Failure to thrive Hypoplasia of the corpus callosum Stage 5 chronic kidney disease Facial asymmetry Wide mouth Retinal dystrophy Sparse hair Proteinuria Alopecia Abnormality of eye movement Hernia Abnormality of the dentition Hydrocephalus Dysarthria Narrow forehead Low-set, posteriorly rotated ears Renal cyst Flat face Narrow chest Unsteady gait Broad nasal tip Postnatal growth retardation Esotropia Pectus carinatum Joint hypermobility Attention deficit hyperactivity disorder Thick eyebrow Synophrys Finger clinodactyly Cerebral cortical atrophy Anxiety Ventriculomegaly Wide nose Bulimia Mesoaxial polydactyly Mesoaxial hand polydactyly Occipital meningocele Y-shaped metacarpals Abnormal oral frenulum morphology Preaxial foot polydactyly Midline notch of upper alveolar ridge Central Y-shaped metacarpal Feeding difficulties Short femur Meningocele Hamartoma Renal hypoplasia/aplasia Midface retrusion Patent ductus arteriosus Partial agenesis of the corpus callosum Tibial bowing Abnormal retinal morphology Hyporeflexia Brachycephaly Bilateral cryptorchidism Hypothyroidism Trigonocephaly Pes planus Neonatal hypotonia Preaxial polydactyly Hypoplasia of olfactory tract Deep palmar crease Hypoplasia of the maxilla Prominent antihelix Hydrometrocolpos Lower limb hypertonia Distal lower limb muscle weakness Distal lower limb amyotrophy Abnormal corpus callosum morphology Persistent left superior vena cava Ankle clonus Intrauterine growth retardation Lower limb hyperreflexia Urinary urgency Toe walking Impaired vibratory sensation Cone/cone-rod dystrophy Spastic gait Lower limb spasticity Hyperesthesia Microtia Bradykinesia 2-3 toe syndactyly Cleft soft palate Pierre-Robin sequence Short sternum Glossoptosis Underdeveloped supraorbital ridges Absent septum pellucidum Athetosis Hepatic failure Hypoplasia of the radius Optic nerve hypoplasia Horseshoe kidney Large fontanelles Short palpebral fissure Tetralogy of Fallot Single transverse palmar crease Frequent falls Hypogonadism Vesicoureteral reflux Gingival overgrowth Overlapping toe Large for gestational age Sacral dimple Sparse eyelashes Low anterior hairline Sparse and thin eyebrow Tall stature Neurodevelopmental delay Long eyelashes Intention tremor Low posterior hairline Abnormality of the ribs Decreased fetal movement Wide intermamillary distance Growth hormone deficiency Supernumerary nipple Vertebral segmentation defect Rod-cone dystrophy Exodeviation Babinski sign Obesity Peripheral neuropathy Cataract Microdontia of primary teeth Bifid ribs Conductive hearing impairment Poliosis Shawl scrotum Bull's eye maculopathy Hyperextensibility of the finger joints Broad philtrum Conical tooth Rectovaginal fistula Beaking of vertebral bodies Sprengel anomaly Vertebral fusion Thickened skin Micropenis Alveolar ridge overgrowth Agenesis of permanent teeth Atrioventricular canal defect Increased number of teeth Arachnoid cyst Myelomeningocele Abnormal cortical gyration Bifid tongue Ovarian cyst Dry hair Porencephalic cyst Hepatic cysts Narrow naris Gray matter heterotopias Multiple glomerular cysts Hypoplasia of dental enamel Abnormality of toe Trident hand Abnormality of the skeletal system Dystonia Clinodactyly of the 5th finger Finger syndactyly Dry skin Hypodontia Choanal atresia Short toe Abnormality of dental enamel Reduced bone mineral density Brittle hair Chronic otitis media Microretrognathia Bifid uvula Open bite Central apnea Prominent forehead Hyperactivity Aggressive behavior Abnormality of the foot Abnormality of skin pigmentation Downturned corners of mouth Macroglossia Open mouth Heterotopia Hypoplasia of the brainstem Protruding tongue Retinal dysplasia Impaired smooth pursuit Breathing dysregulation Carious teeth Agenesis of cerebellar vermis Abnormal saccadic eye movements Meningoencephalocele Abnormality of ocular smooth pursuit Elongated superior cerebellar peduncle Dysgenesis of the cerebellar vermis Brainstem dysplasia Neonatal breathing dysregulation Enlarged fossa interpeduncularis Hemifacial spasm Occipital myelomeningocele Triangular-shaped open mouth Depressivity Abnormality of the cerebral white matter Cone-shaped epiphysis Tarsal synostosis Fever Intestinal malrotation Cerebral cortical hemiatrophy Aplasia/Hypoplasia of the macula Hypoplasia of the small intestine Hypoplastic colon Extrapulmonary sequestrum Visual impairment Hyperreflexia Splenomegaly Intellectual disability, moderate Abnormality of the liver Cirrhosis Iris coloboma Nephropathy Gastrointestinal hemorrhage Abnormality of the cerebellar vermis Cholestasis Chronic kidney disease Portal hypertension Aplasia/Hypoplasia of the cerebellum Abnormality of abdomen morphology Neoplasm of the liver Esophageal varix Cholestatic liver disease Abnormality of the hypothalamus-pituitary axis Congenital hepatic fibrosis Aplasia/Hypoplasia of the cerebellar vermis Multiple small medullary renal cysts Chronic hepatic failure Intrahepatic biliary atresia Pancreatic fibrosis Lymphangioma Exocrine pancreatic insufficiency Specific learning disability Abnormality of the skull Hypoplasia of the zygomatic bone Broad alveolar ridges Lip pit Odontogenic neoplasm Myopia Edema Recurrent respiratory infections Abnormality of the pinna Anal atresia Micromelia Pulmonary hypoplasia Hypopigmentation of the skin Ascites Limb undergrowth Subcortical cerebral atrophy Renal hypoplasia Depressed nasal ridge Omphalocele Hydrops fetalis Muscle stiffness Redundant skin Premature graying of hair Cystic hygroma Generalized hyperpigmentation Protuberant abdomen Enlarged kidney Broad neck Polysplenia Oxycephaly Cerebellar hemorrhage


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