Strabismus, and Kyphosis

Diseases related with Strabismus and Kyphosis

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


Top matches:

Low match X-LINKED COLOBOMATOUS MICROPHTHALMIA-MICROCEPHALY-INTELLECTUAL DISABILITY-SHORT STATURE SYNDROME


X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a rare syndromic microphthalmia disorder characterized by microphthalmia with coloboma (which may involve the iris, cilary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus.

X-LINKED COLOBOMATOUS MICROPHTHALMIA-MICROCEPHALY-INTELLECTUAL DISABILITY-SHORT STATURE SYNDROME Is also known as maine microphthalmos|colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation|x-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED COLOBOMATOUS MICROPHTHALMIA-MICROCEPHALY-INTELLECTUAL DISABILITY-SHORT STATURE SYNDROME

Low match RAHMAN SYNDROME; RMNS


Rahman syndrome is characterized by mild to severe intellectual disability associated with variable somatic overgrowth manifest as increased birth length, height, weight, and/or head circumference. The overgrowth is apparent in infancy and may lessen with time or persist. The phenotype is highly variable; some individuals may have other minor anomalies, including dysmorphic facial features, strabismus, or camptodactyly. The disorder is thought to result from a defect in epigenetic regulation (summary by Tatton-Brown et al., 2017).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Strabismus
  • Abnormal facial shape
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about RAHMAN SYNDROME; RMNS

Low match HORIZONTAL GAZE PALSY WITH PROGRESSIVE SCOLIOSIS


Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla.

HORIZONTAL GAZE PALSY WITH PROGRESSIVE SCOLIOSIS Is also known as progressive external ophthalmoplegia and scoliosis|hgpps

Related symptoms:

  • Seizures
  • Scoliosis
  • Nystagmus
  • Sensorineural hearing impairment
  • Cognitive impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about HORIZONTAL GAZE PALSY WITH PROGRESSIVE SCOLIOSIS

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Other less relevant matches:

Low match SEVERE INTELLECTUAL DISABILITY-SHORT STATURE-BEHAVIORAL ABNORMALITIES-FACIAL DYSMORPHISM SYNDROME


Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability with limited or absent speech and language, short stature, acquired microcephaly, kyphoscoliosis or scoliosis, and behavioral disturbances that include hyperactivity, stereotypy and aggressiveness. Facial dysmorphism, that typically includes sloping forehead, mild synophrys, deep-set eyes, strabismus, anteverted large ears, prominent nose and dental malposition, is also characteristic.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY-SHORT STATURE-BEHAVIORAL ABNORMALITIES-FACIAL DYSMORPHISM SYNDROME

Low match MASA SYNDROME


MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). MASA is characterized by mild to moderate intellectual deficit, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles.

MASA SYNDROME Is also known as spastic paraplegia 1, x-linked|thumb, congenital clasped, with mental retardation|gareis-mason syndrome|intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome|clasped thumb and mental retardation|spg1|mental retardation, aphasia, shufflin

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MASA SYNDROME

Low match CONGENITAL MUSCULAR DYSTROPHY, ULLRICH TYPE


Ullrich congenital muscular dystrophy (UCMD) is characterized by early-onset, generalized and slowly progressive muscle weakness, multiple proximal joint contractures, marked hypermobility of the distal joints and normal intelligence.

CONGENITAL MUSCULAR DYSTROPHY, ULLRICH TYPE Is also known as scleroatonic muscular dystrophy|ullrich disease|ucmd

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Micrognathia
  • Muscle weakness
  • Flexion contracture


SOURCES: ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY, ULLRICH TYPE

Low match CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2


Cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and mental retardation (summary by Gulsuner et al., 2011).For a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 (OMIM ).

CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2 Is also known as cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32; COXPD32


Combined oxidative phosphorylation deficiency-32 is an autosomal recessive neurodegenerative disorder characterized by onset of delayed psychomotor development and developmental regression in infancy. Affected individuals have multiple variable symptoms, including poor or absent speech, inability to walk, and abnormal movements. Brain imaging shows T2-weighted abnormalities in the basal ganglia and brainstem consistent with Leigh syndrome (OMIM ). Patient cells showed decreased activities of mitochondrial respiratory chain complexes, I, III, and IV, as well as impaired mitochondrial translation (summary by Lake et al., 2017).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32; COXPD32

Low match X-LINKED INTELLECTUAL DISABILITY, STOCCO DOS SANTOS TYPE


X-linked intellectual disability, Stocco Dos Santos type is characterised by severe intellectual deficit with hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections. Aggressive behaviour and frequent epileptic seizures may also be present. The syndrome has been described in four boys from the same family. Transmission is X-linked and is caused by mutations in the KIAA1202 gene, localised to the Xp11.2 region.

X-LINKED INTELLECTUAL DISABILITY, STOCCO DOS SANTOS TYPE Is also known as mental retardation, x-linked, stocco dos santos type

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, STOCCO DOS SANTOS TYPE

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 35


Autosomal recessive spastic paraplegia type 35 is a rare form of hereditary spastic paraplegia characterized by childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional manifestations including progressive dysarthria, dystonia, mild cognitive decline, extrapyramidal features, optic atrophy and seizures. White matter abnormalities and brain iron accumulation have also been observed on brain magnetic resonance imaging.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 35 Is also known as fatty acid hydroxylase-associated neurodegeneration|leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia|fahn|spg35

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Ataxia
  • Nystagmus


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 35

Top 5 symptoms//phenotypes associated to Strabismus and Kyphosis

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Scoliosis Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Strabismus and Kyphosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Short stature Kyphoscoliosis Nystagmus Cognitive impairment Absent speech Talipes equinovarus Spasticity Delayed speech and language development Flexion contracture Hyperreflexia Generalized hypotonia

Rare Symptoms - Less than 30% cases


Macrocephaly Hip dislocation Gait disturbance Babinski sign Hypertonia Spastic paraplegia Paraplegia Paraparesis Spastic paraparesis Adducted thumb Progressive spasticity Gastroesophageal reflux Dystonia Optic atrophy Frequent falls Hyperactivity Dysdiadochokinesis Short foot Small hand Inability to walk Ataxia Dysarthria Tremor Hypoplasia of the corpus callosum Intellectual disability, severe Cerebellar atrophy Ptosis Hirsutism Coarse facial features Dysmetria Short neck Cerebellar hypoplasia External ophthalmoplegia Abnormal facial shape Ophthalmoplegia Anteverted ears Sensorineural hearing impairment Esotropia Pendular nystagmus Abnormality of the dentition Visual loss Pontocerebellar atrophy Dysmyelinating leukodystrophy Constipation Feeding difficulties Aplasia of the inferior half of the cerebellar vermis Atrophy of the dentate nucleus Abnormality of the neck Muscular hypotonia of the trunk Thoracic kyphosis Thoracic scoliosis Global brain atrophy Cortical dysplasia Abnormality of the periventricular white matter Short palm Lower limb hypertonia Pollakisuria Progressive spastic paraparesis Upper limb spasticity Enuresis Corpus callosum atrophy Generalized dystonia Neck muscle weakness Irritability Atrophy/Degeneration affecting the brainstem Brain atrophy Intention tremor Heterotopia Truncal ataxia Intellectual disability, progressive Lissencephaly Ankle clonus Developmental regression Foot dorsiflexor weakness Lethargy Urinary incontinence Spastic tetraparesis Abnormality of the cerebral white matter Lower limb muscle weakness Falls Sensory neuropathy Neurodegeneration Abnormal cerebellum morphology Peripheral demyelination Positional foot deformity Oculomotor apraxia Apraxia Tetraparesis Enuresis nocturna Progressive neurologic deterioration Lower limb spasticity Clonus Motor neuron atrophy Mask-like facies Gliosis Bowel incontinence Leukodystrophy Increased serum lactate Choreoathetosis Urinary urgency Exotropia Increased CSF lactate Hypertelorism Pain Mental deterioration Depressed nasal bridge Epicanthus Intellectual disability, profound Sensory axonal neuropathy Peripheral neuropathy Cerebral cortical atrophy Difficulty walking Bruxism EMG: myopathic abnormalities Abnormal pyramidal sign Recurrent infections Hypoplasia of the pons Myokymia Saccadic smooth pursuit Facial myokymia Progressive ophthalmoplegia Horizontal supranuclear gaze palsy Behavioral abnormality Macrotia Progressive external ophthalmoplegia Deeply set eye Aggressive behavior Synophrys Prominent nose Sloping forehead Stereotypy Lymphopenia Ventriculomegaly Thoracolumbar scoliosis Congenital nystagmus Intellectual disability, mild Camptodactyly Microphthalmia Abnormality of the pinna Coloboma Microcornea Diastema Neonatal hypotonia Telecanthus Talipes Abnormality of eye movement Astigmatism Full cheeks Nevus Overgrowth Amblyopia Accelerated skeletal maturation Curved fingers Paralysis Hydrocephalus Clinodactyly of the 5th finger Gait ataxia Long toe Knee flexion contracture Torticollis Abnormal palate morphology Increased variability in muscle fiber diameter Generalized amyotrophy Spinal rigidity Slender finger Pes valgus Decreased fetal movement Diaphragmatic weakness Abnormality of muscle fibers Increased endomysial connective tissue Increased laxity of fingers Hyperextensibility at wrists Hearing impairment Hyporeflexia Micropenis Elbow flexion contracture Generalized muscle weakness Agenesis of corpus callosum Aphasia Pes cavus Abnormality of the nervous system Hyperlordosis Camptodactyly of finger Lumbar hyperlordosis Interphalangeal joint contracture of finger Muscle stiffness Hemiplegia/hemiparesis Hyperactive deep tendon reflexes Respiratory failure Down-sloping shoulders Shuffling gait Aqueductal stenosis Hand clenching Severe hydrocephalus Micrognathia Muscle weakness Elevated serum creatine phosphokinase Iron accumulation in globus pallidus



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Brachydactyly and Depressed nasal ridge, related diseases and genetic alterations Hydrocephalus and Abnormality of the cardiovascular system, related diseases and genetic alterations Low-set ears and Short metacarpal, related diseases and genetic alterations Peripheral neuropathy and Osteoporosis, related diseases and genetic alterations

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