Scoliosis, and Tapered finger

Diseases related with Scoliosis and Tapered finger

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


Top matches:

High match SPLIT HAND-SPLIT FOOT-DEAFNESS SYNDROME


Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM; see this term) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit.

SPLIT HAND-SPLIT FOOT-DEAFNESS SYNDROME Is also known as deafness, congenital, with split hands and feet

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Frontal bossing


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SPLIT HAND-SPLIT FOOT-DEAFNESS SYNDROME

High match SYMPTOMATIC FORM OF COFFIN-LOWRY SYNDROME IN FEMALE CARRIERS


Related symptoms:

  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about SYMPTOMATIC FORM OF COFFIN-LOWRY SYNDROME IN FEMALE CARRIERS

High match CEREBELLAR-FACIAL-DENTAL SYNDROME


Cerebellofaciodental syndrome is an autosomal recessive neurodevelopmental disorder characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia (summary by Borck et al., 2015).

CEREBELLAR-FACIAL-DENTAL SYNDROME Is also known as cerebellar-facial-dental syndrome|cerebellofaciodental syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about CEREBELLAR-FACIAL-DENTAL SYNDROME

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Other less relevant matches:

High match SPINOCEREBELLAR ATAXIA 47; SCA47


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 47; SCA47

High match PEHO-LIKE SYNDROME


PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated.

PEHO-LIKE SYNDROME Is also known as progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about PEHO-LIKE SYNDROME

Medium match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61; MRT61


MRT61 is an autosomal recessive neurodevelopmental disorder characterized by delayed psychomotor development, moderate to severe intellectual disability, and variable dysmorphic facial features. More severely affected patients may develop refractory seizures and have brain abnormalities, including hypoplasia of the corpus callosum (summary by Alwadei et al., 2016).

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61; MRT61 Is also known as alwadei syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61; MRT61

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41; EIEE41


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41; EIEE41

Medium match METAPHYSEAL CHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA


Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria (see these terms). Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay.

METAPHYSEAL CHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA Is also known as spondyloenchondromatosis with d-2-hydroxyglutaric aciduria|metaphyseal enchondrodysplasia with 2-hydroxyglutaric aciduria|metaphyseal chondromatosis with d-2-hydroxyglutaric aciduria

Related symptoms:

  • Global developmental delay
  • Short stature
  • Scoliosis
  • Strabismus
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about METAPHYSEAL CHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA

Medium match CDKL5-RELATED EPILEPTIC ENCEPHALOPATHY


Early infantile epileptic encephalopathy-2 is an X-linked dominant severe neurologic disorder characterized by onset of seizures in the first months of life and severe global developmental delay resulting in mental retardation and poor motor control. Other features include lack of speech development, subtle dysmorphic facial features, sleep disturbances, gastrointestinal problems, and stereotypic hand movements. There is some phenotypic overlap with Rett syndrome (OMIM ), but EIEE2 is considered to be a distinct entity (summary by Fehr et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

CDKL5-RELATED EPILEPTIC ENCEPHALOPATHY Is also known as issx2|cdkl5 deficiency disorder|infantile spasm syndrome, x-linked 2

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CDKL5-RELATED EPILEPTIC ENCEPHALOPATHY

Medium match CORPUS CALLOSUM AGENESIS-ABNORMAL GENITALIA SYNDROME


Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (prominent supraorbital ridges, synophris, large eyes) and optic atrophy have been observed.

CORPUS CALLOSUM AGENESIS-ABNORMAL GENITALIA SYNDROME Is also known as proud syndrome|microcephaly-corpus callosum agenesis-abnormal genitalia syndrome|acc with abnormal genitalia|acc-abnormal genitalia syndrome|proud-levine-carpenter syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CORPUS CALLOSUM AGENESIS-ABNORMAL GENITALIA SYNDROME

Top 5 symptoms//phenotypes associated to Scoliosis and Tapered finger

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Scoliosis and Tapered finger. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Spasticity Generalized hypotonia Hypoplasia of the corpus callosum Hypsarrhythmia High palate Intellectual disability, profound Low-set ears Epileptic encephalopathy Encephalopathy Motor delay Visual impairment Absent speech Cerebral visual impairment Kyphoscoliosis Progressive microcephaly Synophrys Abnormal facial shape

Rare Symptoms - Less than 30% cases


Sloping forehead Generalized myoclonic seizures Cerebral atrophy Cognitive impairment Developmental regression Delayed speech and language development Postnatal microcephaly Hirsutism Blindness Infantile encephalopathy Severe global developmental delay Small hand Inability to walk Narrow forehead Delayed myelination Brain atrophy Intellectual disability, severe Short palm Tetraparesis Joint laxity Strabismus EEG abnormality Hyperreflexia Optic atrophy Cerebellar atrophy Depressed nasal bridge Myoclonus Hyperactivity Neonatal hypotonia Epicanthus Flexion contracture Muscular hypotonia Clinodactyly Hypertelorism Ventriculomegaly Cerebellar hypoplasia Low anterior hairline Frontal bossing Infantile spasms Renal dysplasia Rhizomelia Waddling gait Aciduria Abnormality of the genital system Generalized hirsutism Intellectual disability, progressive Genu valgum Lissencephaly Abnormality of the pinna Alopecia Dilatation Spastic tetraplegia Apraxia Renal hypoplasia/aplasia Macrocephaly Thoracic scoliosis Prominent supraorbital ridges Focal motor seizures Overlapping toe Muscle fibrillation Nephrocalcinosis Abnormality of the hip bone Abnormally large globe Abnormal hair pattern Limb joint contracture Abnormality of movement Lethargy Irritability Broad alveolar ridges Tetraplegia Protruding ear Irregular vertebral endplates Bruxism Multifocal seizures Deeply set eye Broad forehead Mood swings Developmental stagnation Thick vermilion border Sleep disturbance Respiratory failure Hyperventilation Poor eye contact Loss of consciousness Spastic tetraparesis Focal-onset seizure Stereotypy Gastroesophageal reflux Thoracolumbar kyphoscoliosis Thick lower lip vermilion Inguinal hernia Thoracolumbar scoliosis Coarse facial features Cerebral cortical atrophy Agenesis of corpus callosum Cavum septum pellucidum Abnormality of dental eruption D-2-hydroxyglutaric aciduria Prominent forehead Hypospadias Cryptorchidism Anteverted nares Nystagmus Intellectual disability, mild Constipation EEG with generalized slow activity Short foot Talipes equinovarus Feeding difficulties Laryngomalacia Anodontia Short neck Sparse hair Poor speech Dental malocclusion Fine hair Sparse and thin eyebrow Sparse eyebrow Large hands Stridor Slender long bone Taurodontia Hypoplasia of the pons Laryngeal stridor Macrodontia of permanent maxillary central incisor Ataxia Ptosis Bipolar affective disorder Oligodontia Wide nasal bridge Aplasia of the 2nd finger Sensorineural hearing impairment Severe short stature Split hand Abnormality of the nail Split foot Moderate hearing impairment Hitchhiker thumb Downslanted palpebral fissures Psychosis Kyphosis Abnormality of cardiovascular system morphology Obesity Depressivity Pectus excavatum Pectus carinatum Wide nose Everted lower lip vermilion Dysarthria Syndactyly Growth delay Talipes Babinski sign Pes cavus Posteriorly rotated ears Mandibular prognathia Aggressive behavior Muscular hypotonia of the trunk Dolichocephaly Unsteady gait Central hypotonia Long face Bulbous nose Thick eyebrow Highly arched eyebrow Prominent nose Long eyelashes Decreased muscle mass Delayed ability to walk Hearing impairment Severe muscular hypotonia Gait ataxia Cerebellar vermis atrophy Toe syndactyly Dysmetria Progressive cerebellar ataxia Chorea Generalized-onset seizure Diplopia Incoordination Dilated fourth ventricle Pachygyria Edema Hypertonia Short nose Retrognathia Polymicrogyria Full cheeks Status epilepticus Open mouth Hyperconvex nail



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