Spasticity, and Arachnodactyly

Diseases related with Spasticity and Arachnodactyly

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


Top matches:

Medium match GALLOWAY-MOWAT SYNDROME 5; GAMOS5


Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism and ear abnormalities. Other features, such as arachnodactyly and visual or hearing impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 5; GAMOS5

Medium match DYSEQUILIBRIUM SYNDROME


Dysequilibrium syndrome (DES) is a non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia.

DYSEQUILIBRIUM SYNDROME Is also known as cerebellar ataxia-intellectual disability-dysequilibrium syndrome syndrome|cerebellar hypoplasia, vldlr-associated|non-progressive cerebellar ataxia-intellectual disability syndrome|cerebellar ataxia and mental retardation with or without quadrupedal loco

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about DYSEQUILIBRIUM SYNDROME

Medium match GALLOWAY-MOWAT SYNDROME 4; GAMOS4


Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 4; GAMOS4

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Other less relevant matches:

Medium match GALLOWAY-MOWAT SYNDROME 2, X-LINKED; GAMOS2


Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 2, X-LINKED; GAMOS2

Medium match PYCR2-RELATED MICROCEPHALY-PROGRESSIVE LEUKOENCEPHALOPATHY


PYCR2-related microcephaly-progressive leukoencephalopathy is a rare, genetic, syndromic intellectual disability disorder characterized by progressive postnatal microcephaly, cerebral hypomyelination and severe psychomotor developmental delayed with absent speech, as well as axial hypotonia, appendicular hypertonia with hyperextensibility of the wrists and ankles, hyperreflexia, severe muscle wasting and failure to thrive. Associated craniofacial dysmorphism includes triangular facies with bitemporal narrowing, down- or upslanting palpebral fissures, malar hypoplasia, large malformed ears with overfolded helices, upturned bulbous nose, long smooth philtrum and thin vermilion borders.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PYCR2-RELATED MICROCEPHALY-PROGRESSIVE LEUKOENCEPHALOPATHY

Medium match EARLY-ONSET SEIZURES-DISTAL LIMB ANOMALIES-FACIAL DYSMORPHISM-GLOBAL DEVELOPMENTAL DELAY SYNDROME


IDDFSDA is an autosomal recessive severe multisystem disorder characterized by poor overall growth, developmental delay, early-onset seizures, intellectual disability, and dysmorphic features. There is phenotypic variability. The most severely affected patients have a neurodevelopmental disorder with microcephaly, absent speech, and inability to walk, and they require feeding tubes. Some patients have congenital heart defects or nonspecific abnormalities on brain imaging. Less severely affected individuals have mild to moderate intellectual disability with normal speech and motor development (summary by Santiago-Sim et al., 2017).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET SEIZURES-DISTAL LIMB ANOMALIES-FACIAL DYSMORPHISM-GLOBAL DEVELOPMENTAL DELAY SYNDROME

Medium match AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO STUB1 DEFICIENCY


Autosomal recessive cerebellar ataxia due to STUB1 deficiency is a rare hereditary ataxia characterized by progressive truncal and limb ataxia resulting in gait instability. Dysarthria, dysphagia, nystagmus, spasticity of the lower limbs, mild peripheral sensory neuropathy, cognitive impairment and accelerated ageing have also been associated.

AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO STUB1 DEFICIENCY Is also known as scar16|spinocerebellar ataxia autosomal recessive type 16

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO STUB1 DEFICIENCY

Medium match GALLOWAY-MOWAT SYNDROME 3; GAMOS3


Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 3; GAMOS3

Medium match 2Q32Q33 MICRODELETION SYNDROME


2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features.

2Q32Q33 MICRODELETION SYNDROME Is also known as monosomy 2q32-q33|2q32-q33 microdeletion syndrome|del(2)(q32q33)|chromosome 2q32-q33 deletion syndrome|monosomy 2q32q33|del(2)(q32)|monosomy 2q32

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 2Q32Q33 MICRODELETION SYNDROME

Medium match RENPENNING SYNDROME 1; RENS1


Renpenning syndrome is an X-linked mental retardation syndrome with clinically recognizable features. Affected individuals have microcephaly, short stature, small testes, and dysmorphic facies, including tall narrow face, upslanting palpebral fissures, abnormal nasal configuration, cupped ears, and short philtrum. The nose may appear long or bulbous, with overhanging columella. Less consistent manifestations include ocular colobomas, cardiac malformations, cleft palate, and anal anomalies. Stevenson et al. (2005) proposed that the various X-linked mental retardation syndromes due to PQBP1 mutations be combined under the name of Renpenning syndrome.

RENPENNING SYNDROME 1; RENS1 Is also known as mrxs3|mental retardation, x-linked, syndromic 3|shs|mental retardation, x-linked, renpenning type|golabi-ito-hall syndrome|mental retardation, x-linked 55|mental retardation, x-linked, syndromic 8|mrxs8|mrx55|mental retardation, x-linked, with spastic dip

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RENPENNING SYNDROME 1; RENS1

Top 5 symptoms//phenotypes associated to Spasticity and Arachnodactyly

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Microcephaly Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Spasticity and Arachnodactyly. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Short stature

Common Symptoms - More than 50% cases


Delayed speech and language development

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Cerebral atrophy Nystagmus Micrognathia Hyperreflexia Feeding difficulties High palate Hypertelorism Growth delay Cerebellar hypoplasia Cerebellar atrophy Intellectual disability, severe Failure to thrive Low-set ears Downslanted palpebral fissures Absent speech Intrauterine growth retardation Hypoplasia of the corpus callosum Long philtrum Proteinuria Strabismus Focal segmental glomerulosclerosis Glomerulosclerosis Nephrotic syndrome Stage 5 chronic kidney disease Visual impairment Macrotia Scoliosis Long face Thin upper lip vermilion Bulbous nose Brachycephaly Anteverted nares Narrow forehead Malar flattening Camptodactyly Narrow mouth Wide nasal bridge Epicanthus Pachygyria Ventriculomegaly Skeletal muscle atrophy Ataxia Babinski sign

Rare Symptoms - Less than 30% cases


Autism Mandibular prognathia Broad forehead Prominent nasal bridge Protruding ear Deeply set eye Poor speech Brain atrophy Abnormal heart morphology Talipes equinovarus Flexion contracture Cryptorchidism Leukodystrophy Postnatal microcephaly Triangular face Inability to walk Broad thumb Overlapping toe Long eyelashes Coloboma Clinodactyly of the 5th finger Sparse hair Behavioral abnormality Short philtrum Cleft palate Prominent nose Convex nasal ridge Pectus excavatum Smooth philtrum Midface retrusion Microphthalmia Decreased testicular size Corpus callosum atrophy Diabetes mellitus Alopecia Long nose Thin vermilion border Anxiety Cortical gyral simplification Broad-based gait Gait disturbance Dysarthria Motor delay Polymicrogyria Cognitive impairment Truncal ataxia Cataract Hypertonia Tremor Gait ataxia Diffuse mesangial sclerosis Muscular hypotonia Progressive cerebellar ataxia Upslanted palpebral fissure Dysmetria Tapered finger Gaze-evoked nystagmus Abnormality of the pinna Macrodontia Intellectual disability, profound Fine hair Short palpebral fissure Sparse lateral eyebrow Hemiparesis Thin skin Dental crowding Chorioretinal coloboma Microretrognathia Drooling Oligodontia Tented upper lip vermilion Moderately short stature Dermal atrophy Abnormality of dental morphology Bilateral talipes equinovarus Myopathic facies Abnormality of digit Restlessness Abnormality of the periventricular white matter Phimosis Relative macrocephaly Heterotaxy Abnormality of the thumb Thick eyebrow Aggressive behavior Joint laxity Postnatal growth retardation Attention deficit hyperactivity disorder Broad columella Abnormality of the cerebral white matter Abnormality of the foot Facial asymmetry Joint hyperflexibility Talipes Short palm Small face Wide nose Downturned corners of mouth Sleep disturbance Ectodermal dysplasia Thin eyebrow Dental malocclusion Self-mutilation Nail dysplasia Febrile seizures Abnormality of the rib cage Narrow nose Pes valgus Short columella Joint contracture of the hand Anal atresia Narrow foot Iris coloboma High, narrow palate Hypoplasia of the maxilla Ankylosis Tetralogy of Fallot Abnormality of the ribs Sprengel anomaly Renal hypoplasia Prominent metopic ridge Osteopenia Hypermetropia High hypermetropia Situs inversus totalis Abnormality of the hair Narrow face Cachexia Poor suck Nasal speech Spastic diplegia Failure to thrive in infancy Mild short stature Decreased head circumference Paraplegia Anteverted ears Broad hallux phalanx Incomprehensible speech Conical tooth Cleft soft palate Generalized osteoporosis Excessive salivation Overbite Cupped ear Happy demeanor Toe clinodactyly Median cleft palate Large beaked nose Dacryocystitis Narrow maxilla Joint stiffness Conspicuously happy disposition Narrow jaw Sensorineural hearing impairment Ventricular septal defect Atrial septal defect Blindness Intellectual disability, mild Hypospadias Pes cavus Round ear Severe short stature Abnormality of the nervous system Spastic paraplegia Hyperactive deep tendon reflexes High forehead Peripheral neuropathy Long toe Short neck Retrognathia Autistic behavior Abnormal cardiac septum morphology Highly arched eyebrow Tetraplegia Spastic tetraplegia Sacral dimple Flat occiput Long palpebral fissure Dysphagia Overfolded helix Myoclonus Hypogonadism Glaucoma Hypothyroidism Difficulty walking Rigidity Neurological speech impairment Ophthalmoplegia Infertility Unsteady gait Peripheral axonal neuropathy Global brain atrophy CNS hypomyelination Sensory neuropathy Hypoplasia of the brainstem Peripheral demyelination Abnormality of metabolism/homeostasis Pes planus Neonatal hypotonia Intellectual disability, moderate Abnormality of the eye Abnormality of movement Intention tremor Cerebral palsy Abnormality of vision Dysdiadochokinesis Toe walking Mutism Nonprogressive cerebellar ataxia Esotropia Minimal change glomerulonephritis Abnormality of the skeletal system Short nose Cerebral cortical atrophy Muscular hypotonia of the trunk Pectus carinatum Generalized tonic-clonic seizures Thick vermilion border Progressive microcephaly Distal amyotrophy Postural instability Hyperactivity Hypoplastic left heart Abnormality of the sella turcica Abnormal motor evoked potentials Edema Hip dislocation Ichthyosis Sloping forehead Oligohydramnios Coarctation of aorta Hypocalcemia Lissencephaly Hypoalbuminemia Hand clenching Old-aged sensorineural hearing impairment Hypertensive crisis Ptosis Brachydactyly Macrocephaly Frontal bossing Abnormality of the dentition Hernia Inguinal hernia Posteriorly rotated ears Osteoporosis Hyperhidrosis Parietal cortical atrophy Abnormal involuntary eye movements Memory impairment Ankle clonus Type II diabetes mellitus Lower limb spasticity Limb ataxia Horizontal nystagmus Type I diabetes mellitus Oculomotor apraxia Pancreatitis External ophthalmoplegia Adducted thumb Postural tremor Sensory axonal neuropathy Colitis Iridocyclitis Uveitis Retinal atrophy Hand tremor Oligomenorrhea Progeroid facial appearance Hypoplasia of the pons Head tremor Ulcerative colitis Impaired proprioception Speech apraxia Saccadic smooth pursuit Delayed menarche Abnormal hair laboratory examination



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Feeding difficulties and Hyperinsulinemia, related diseases and genetic alterations Congestive heart failure and Proximal muscle weakness, related diseases and genetic alterations Delayed speech and language development and Hyporeflexia, related diseases and genetic alterations Hydrocephalus and Cerebellar vermis hypoplasia, related diseases and genetic alterations

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