Muscle weakness, and Postaxial polydactyly

Diseases related with Muscle weakness and Postaxial polydactyly

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

Top matches:

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

NDMSBA is an autosomal recessive neurodevelopmental disorder characterized by infantile onset of progressive microcephaly and spasticity and severe global developmental delay resulting in profound mental retardation and severely impaired or absent motor function. More variable features include seizures and optic atrophy. Brain imaging may show myelinating abnormalities and white matter lesions consistent with a leukoencephalopathy, as well as structural anomalies, including thin corpus callosum, gyral abnormalities, and cerebral or cerebellar atrophy. Some patients die in early childhood (summary by Falik Zaccai et al., 2017 and Hall et al., 2017).

PLAA-ASSOCIATED NEURODEVELOPMENTAL DISORDER Is also known as plaand

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PLAA-ASSOCIATED NEURODEVELOPMENTAL DISORDER

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

Other less relevant matches:

Related symptoms:

  • Abnormal facial shape
  • Hyperhidrosis
  • Postaxial hand polydactyly
  • Broad phalanges of the 5th finger


SOURCES: OMIM MENDELIAN

More info about POLYDACTYLY, POSTAXIAL, TYPE A6; PAPA6

Polydactyly refers to the occurrence of supernumerary digits and is the most frequent of congenital hand and foot deformities. Based on the location of the extra digits, polydactyly can be classified into preaxial, involving the thumb or great toe; postaxial, affecting the fifth digit; and central, involving the 3 central digits. Postaxial polydactyly (PAP) is further subclassified into 2 types: in type A, a well-formed extra digit articulates with the fifth or a sixth metacarpal, whereas in type B, a rudimentary, poorly developed extra digit is present (summary by Umm-e-Kalsoom et al., 2012). Genetic Heterogeneity of Postaxial PolydactylyOther forms of postaxial polydactyly type A include PAPA2 (OMIM ) on chromosome 13q21; PAPA3 (OMIM ) on chromosome 19p13; PAPA4 (OMIM ) on chromosome 7q22; PAPA5 (OMIM ) on chromosome 13q13; PAPA6 (OMIM ), caused by mutation in the ZNF141 gene (OMIM ) on chromosome 4p16; PAPA7 (OMIM ), caused by mutation in the IQCE gene (OMIM ) on chromosome 7p22; and PAPA8 (OMIM ), caused by mutation in the GLI1 gene (OMIM ) on chromosome 12q13.

POSTAXIAL POLYDACTYLY TYPE A Is also known as postaxial polydactyly, type a|papa|polydactyly, postaxial

Related symptoms:

  • Syndactyly
  • Polydactyly
  • Abnormality of the foot
  • Postaxial polydactyly
  • Postaxial hand polydactyly


SOURCES: OMIM ORPHANET MENDELIAN

More info about POSTAXIAL POLYDACTYLY TYPE A

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7; MC3DN7

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Low-set ears
  • Brachydactyly
  • Ventricular septal defect
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY; SRTD19

Joubert syndrome is characterized by a specific hindbrain formation, hypotonia, cerebellar ataxia, dysregulated breathing patterns, and developmental delay. Ciliary dysfunction is a key factor in the pathogenesis (Coene et al., 2009).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about JOUBERT SYNDROME 10; JBTS10

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

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about JOUBERT SYNDROME 7; JBTS7

Top 5 symptoms//phenotypes associated to Muscle weakness and Postaxial polydactyly

Symptoms // Phenotype % cases
Polydactyly Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Ataxia Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Postaxial hand polydactyly Molar tooth sign on MRI Encephalocele Nystagmus Epicanthus Growth delay Syndactyly Motor delay Spasticity Low-set ears Seizures

Rare Symptoms - Less than 30% cases

Cleft lip Microcephaly Micrognathia Oral cleft Long fingers Feeding difficulties Dysarthria Polymicrogyria Respiratory insufficiency Gait disturbance Hearing impairment Brachydactyly Cleft palate Long philtrum Cryptorchidism Hyperhidrosis Intellectual disability, profound Apnea Hirsutism Cataract Abnormality of the eye Rigidity Mutism Absent speech Talipes equinovarus EEG abnormality Short ribs Frontal bossing Downslanted palpebral fissures Macrocephaly Scoliosis Wide nasal bridge Rod-cone dystrophy Abnormality of eye movement Central apnea Relative macrocephaly Strabismus Disproportionate tall stature Bradycardia Hyperpigmentation of the skin Spina bifida Neoplasm of the skin Hypogonadotrophic hypogonadism Muscle stiffness Hemivertebrae Spina bifida occulta Inflammation of the large intestine Melanocytic nevus Nephritis Glomerulonephritis Exotropia Hypotrichosis Hemiparesis Carcinoma Hydrocephalus Abnormality of the dentition Microphthalmia Pectus excavatum Visual loss Brachycephaly Abdominal pain Glaucoma Proptosis Mandibular prognathia Kyphoscoliosis Retrognathia Coarse facial features Proteinuria Abnormality of the ribs Abnormality of the skeletal system Telecanthus Facial palsy Sparse hair Papule Carious teeth Arachnodactyly Cleft upper lip Iris coloboma Palmoplantar keratoderma Nevus Hypotension Cerebral calcification Coloboma Down-sloping shoulders Milia Retinal dystrophy Cardiac rhabdomyoma Odontogenic keratocysts of the jaw Ovarian fibroma Plantar pits Bridged sella turcica Cardiac fibroma Irregular ossification of hand bones Hamartomatous stomach polyps Ptosis Renal insufficiency Hernia Inguinal hernia Genu valgum Stage 5 chronic kidney disease Renal cyst Curved fingers Apraxia Renal hypoplasia Horizontal nystagmus Oculomotor apraxia Hypoplasia of the brainstem Nephronophthisis Abnormal retinal morphology Occipital encephalocele Severe postnatal growth retardation Abnormal corpus callosum morphology Meningoencephalocele Episodic tachypnea Brainstem dysplasia Neonatal breathing dysregulation Bifid ribs Histiocytoma Basal cell carcinoma Brain neoplasm Agenesis of permanent teeth Vertebral fusion Colitis Abnormality of the sternum Thoracic scoliosis Sprengel anomaly Narrow nose Fragile nails Skin tags Short 4th metacarpal Abnormality of the neck Neoplasm of the endocrine system Broad face Ulcerative colitis Astrocytoma Calcification of falx cerebri Parietal bossing Orbital cyst Palmar pits Short distal phalanx of the thumb Severe hydrocephalus Multiple impacted teeth Ovarian carcinoma Vertebral wedging Medulloblastoma Abnormality of the sense of smell Fibroma Hamartomatous polyposis Cervical ribs Supernumerary ribs Ectopic calcification Pain Pulmonary hypoplasia Neoplasm Muscular hypotonia of the trunk Dysphagia Ventriculomegaly Hypoplasia of the corpus callosum Edema Cerebellar atrophy Hypertonia Kyphosis Short nose Pneumonia Posteriorly rotated ears Cerebral cortical atrophy Pectus carinatum Delayed speech and language development Severe global developmental delay Smooth philtrum Single transverse palmar crease Delayed myelination Abnormality of extrapyramidal motor function Hypsarrhythmia Tetraparesis Hypertrichosis Progressive microcephaly Spastic tetraparesis Leukoencephalopathy Tented upper lip vermilion Optic atrophy High palate Rocker bottom foot Cone/cone-rod dystrophy Cognitive impairment Peripheral neuropathy Obesity Babinski sign Hypogonadism Abnormality of the kidney Bradykinesia Renal dysplasia Frequent falls Lower limb spasticity Spastic gait Impaired vibratory sensation Flexion contracture Toe walking Urinary urgency Macular dystrophy Lower limb hyperreflexia Ankle clonus Distal lower limb amyotrophy Distal lower limb muscle weakness Cystic renal dysplasia Lower limb hypertonia Hydrometrocolpos Hyperesthesia Failure to thrive Poor suck Progressive spasticity Hypertelorism Thoracic hypoplasia Renal tubular acidosis Proximal renal tubular acidosis Ventricular septal defect Respiratory distress Midface retrusion Prominent forehead Respiratory failure Dolichocephaly Narrow chest Micromelia Hypoplasia of the radius Prominent occiput Poor speech Thoracic dysplasia Hypoplastic ilia Lateral clavicle hook Horizontal ribs Recurrent infections Deeply set eye Feeding difficulties in infancy Thick vermilion border Cerebellar vermis hypoplasia Deep philtrum Enlarged cisterna magna Infra-orbital crease Metabolic acidosis Synophrys Bulbar palsy Agenesis of cerebellar vermis Central hypotonia Hypomimic face Exaggerated startle response Contractures of the large joints Progressive leukoencephalopathy Hyperreflexia Cerebellar hypoplasia Hypermetropia Talipes Dysmetria Pachygyria Abnormality of digit Abnormal facial shape Aggressive behavior Broad phalanges of the 5th finger Abnormality of the foot Broad thumb Preaxial polydactyly Triphalangeal thumb Sensorineural hearing impairment Depressed nasal bridge Intrauterine growth retardation Upslanted palpebral fissure Hyperactivity Acidosis Neonatal hypotonia Absence of renal corticomedullary differentiation


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