Dysarthria, and Postaxial hand polydactyly

Diseases related with Dysarthria and Postaxial hand polydactyly

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

Top matches:

JBTS32 is an autosomal recessive developmental disorder characterized by delayed psychomotor development, intellectual disability, dysmorphic facial features, and postaxial polydactyly. Brain imaging shows cerebellar abnormalities consistent with the molar tooth sign (MTS) (summary by De Mori et al., 2017).For discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 32; JBTS32

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

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

Other less relevant matches:

BASAL CELL NEVUS SYNDROME; BCNS Is also known as nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome|gorlin syndrome|nbccs|multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about BASAL CELL NEVUS SYNDROME; BCNS

This disorder comprises macrocephaly, megalencephaly, ventriculomegaly, polymicrogyria, and polydactyly. Most affected individuals have severely delayed psychomotor development (summary by Mirzaa et al., 2014).For a discussion of genetic heterogeneity of MPPH, see MPPH1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Macrocephaly
  • Ventriculomegaly
  • Hydrocephalus
  • Absent speech


SOURCES: OMIM MENDELIAN

More info about MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3; MPPH3

Joubert syndrome-24 is an autosomal recessive ciliopathy characterized by delayed psychomotor development associated with cerebellar hypoplasia manifest as the molar tooth sign on brain imaging. Additional variable features include hypotonia, abnormal eye movements, and postaxial polydactyly (summary by Huppke et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 24; JBTS24

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about JOUBERT SYNDROME 7; JBTS7

Bardet-Biedl syndrome (BBS) is a ciliopathy with multisystem involvement.

BARDET-BIEDL SYNDROME Is also known as bbs

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Nystagmus
  • Cryptorchidism


SOURCES: ORPHANET MENDELIAN

More info about BARDET-BIEDL SYNDROME

Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome is characterized by megalencephaly, polymicrogyria, and hydrocephalus with variable polydactyly. It has been described in six unrelated patients. Intellectual deficit or slow development is also present. The mode of inheritance of this syndrome is unknown since all cases were sporadic.

MEGALENCEPHALY-POLYMICROGYRIA-POSTAXIAL POLYDACTYLY-HYDROCEPHALUS SYNDROME Is also known as meg-pmg-megacc syndrome|mpph syndrome|megalencephaly, polymicrogyria, mega corpus callosum syndrome|mpph|megalencephaly, mega corpus callosum, and complete lack of motor development

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MEGALENCEPHALY-POLYMICROGYRIA-POSTAXIAL POLYDACTYLY-HYDROCEPHALUS SYNDROME

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

Top 5 symptoms//phenotypes associated to Dysarthria and Postaxial hand polydactyly

Symptoms // Phenotype % cases
Polydactyly Very Common - Between 80% and 100% cases
Postaxial polydactyly Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Molar tooth sign on MRI Macrocephaly Generalized hypotonia Telecanthus Absent speech Polymicrogyria Hydrocephalus Frontal bossing Hypertelorism Nystagmus Encephalocele Hepatic fibrosis Abnormality of eye movement Abnormality of the eye Ptosis Prominent forehead Abnormality of the kidney Abnormal facial shape Hearing impairment Micrognathia Seizures Oculomotor apraxia Apraxia Downslanted palpebral fissures Epicanthus Motor delay

Rare Symptoms - Less than 30% cases

Thick corpus callosum Stage 5 chronic kidney disease Oral cleft Cleft lip Spasticity Talipes equinovarus Carious teeth Cerebellar hypoplasia Proteinuria Sparse hair Cryptorchidism Milia Pachygyria Central apnea Neonatal breathing dysregulation Strabismus Prominent nasal bridge Scoliosis Brainstem dysplasia Episodic tachypnea Meningoencephalocele Mandibular prognathia Occipital encephalocele Mutism Hypoplasia of the brainstem Coloboma Hypoplasia of the corpus callosum Renal cyst Syndactyly Apnea Agenesis of cerebellar vermis Nephronophthisis Agenesis of permanent teeth Retinal dystrophy Wide nasal bridge Renal insufficiency Obesity Abnormality of the dentition Cognitive impairment Cataract Growth delay Elongated superior cerebellar peduncle Large for gestational age Hypogonadism Thoracic scoliosis Cerebellar vermis hypoplasia Ventriculomegaly Megalencephaly Short stature Microcephaly Cleft palate Low-set ears Abnormal cerebellum morphology Hypertension Brachydactyly Skeletal muscle atrophy Tremor Depressed nasal bridge Gait disturbance Palmar pits Short distal phalanx of the thumb Horizontal nystagmus Multiple impacted teeth Abnormal retinal morphology Severe postnatal growth retardation Severe hydrocephalus Abnormal corpus callosum morphology Ovarian carcinoma Renal hypoplasia Curved fingers Orbital cyst Bridged sella turcica Frontoparietal polymicrogyria Hyperreflexia Perisylvian polymicrogyria Hamartomatous stomach polyps Hypermetropia Irregular ossification of hand bones Talipes Cardiac fibroma Dysmetria Plantar pits Genu valgum Ovarian fibroma Odontogenic keratocysts of the jaw Cardiac rhabdomyoma Bifid ribs Abnormality of digit Histiocytoma Hernia Inguinal hernia Calcification of falx cerebri Absence of renal corticomedullary differentiation Mitral regurgitation Short neck Heterotopia Muscular hypotonia Anteverted nares Hyperactivity Aggressive behavior Abnormality of the foot Abnormality of skin pigmentation Long face Downturned corners of mouth Highly arched eyebrow Macroglossia Dandy-Walker malformation Narrow forehead Open mouth Tachypnea Capillary malformation Chorioretinal coloboma Protruding tongue Self-mutilation Retinal dysplasia Impaired smooth pursuit Optic nerve coloboma Breathing dysregulation Abnormal pattern of respiration Abnormal saccadic eye movements Abnormality of ocular smooth pursuit Dysgenesis of the cerebellar vermis Enlarged fossa interpeduncularis Hemifacial spasm Occipital myelomeningocele Vascular ring Abnormal nasal morphology Low-set, posteriorly rotated ears Intellectual disability, severe Neurological speech impairment Finger syndactyly Pigmentary retinopathy Hypoplasia of penis Nephrotic syndrome Generalized hirsutism Multicystic kidney dysplasia Abnormal electroretinogram Hypoplasia of the ovary Medial flaring of the eyebrow Visual impairment Ventricular septal defect Atrial septal defect Blindness Cavum septum pellucidum Kyphosis Narrow mouth High forehead Muscular hypotonia of the trunk Abnormal cardiac septum morphology Intellectual disability, profound Vertebral wedging Knee flexion contracture Cortical dysplasia Infantile spasms Long palpebral fissure Abnormally large globe Dilation of lateral ventricles Abnormal localization of kidney Parietal bossing Neoplasm of the skin Abnormality of the sense of smell Bifid tongue Bifid uvula Underdeveloped nasal alae Hypoplasia of dental enamel Microretrognathia Cutaneous syndactyly Polycystic kidney dysplasia Radial deviation of finger Atrioventricular canal defect Increased number of teeth Median cleft lip Arachnoid cyst Myelomeningocele Abnormal cortical gyration Abnormality of the pancreas Abnormality of the cerebral white matter Ovarian cyst Dry hair Porencephalic cyst Hepatic cysts Pancreatic cysts Deviation of finger Narrow naris Lobulated tongue Tongue nodules Hypothalamic hamartoma Gray matter heterotopias Alveolar ridge overgrowth Multiple glomerular cysts Facial asymmetry Agenesis of corpus callosum Trident hand Toe walking Intellectual disability, mild Tall stature Peripheral neuropathy Babinski sign Rod-cone dystrophy Rigidity Bradykinesia Renal dysplasia Frequent falls Lower limb spasticity Spastic gait Cone/cone-rod dystrophy Impaired vibratory sensation Urinary urgency Alopecia Macular dystrophy Lower limb hyperreflexia Ankle clonus Distal lower limb amyotrophy Distal lower limb muscle weakness Cystic renal dysplasia Lower limb hypertonia Hydrometrocolpos Hyperesthesia High palate Dilatation Depressivity Clinodactyly Abnormal heart morphology Abnormality of toe Neoplasm Fibroma Narrow nose Spina bifida occulta Relative macrocephaly Glomerulonephritis Nephritis Melanocytic nevus Inflammation of the large intestine Disproportionate tall stature Basal cell carcinoma Long fingers Vertebral fusion Colitis Abnormality of the sternum Sprengel anomaly Fragile nails Hypogonadotrophic hypogonadism Down-sloping shoulders Skin tags Short 4th metacarpal Abnormality of the neck Neoplasm of the endocrine system Broad face Ulcerative colitis Brain neoplasm Astrocytoma Medulloblastoma Ectopic calcification Supernumerary ribs Cervical ribs Hamartomatous polyposis Hemivertebrae Muscle stiffness Pain Facial palsy Abnormality of the skeletal system Microphthalmia Pectus excavatum Visual loss Brachycephaly Abdominal pain Glaucoma Proptosis Kyphoscoliosis Retrognathia Coarse facial features EEG abnormality Carcinoma Papule Short ribs Hypotrichosis Arachnodactyly Cleft upper lip Iris coloboma Palmoplantar keratoderma Nevus Hypotension Cerebral calcification Abnormality of the ribs Hemiparesis Exotropia Hyperpigmentation of the skin Bradycardia Spina bifida Triangular-shaped open mouth


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