Microphthalmia, and Muscular hypotonia of the trunk

Diseases related with Microphthalmia and Muscular hypotonia of the trunk

In the following list you will find some of the most common rare diseases related to Microphthalmia and Muscular hypotonia of the trunk that can help you solving undiagnosed cases.


Top matches:

High match LISSENCEPHALY 8; LIS8


Lissencephaly-8 is an autosomal recessive neurologic disorder characterized by delayed psychomotor development, intellectual disability with poor or absent speech, early-onset refractory seizures, and hypotonia. Brain imaging shows variable features, including cortical gyral abnormalities and hypoplasia of the corpus callosum, brainstem, and cerebellum (summary by Jerber et al., 2016).For a general description and a discussion of genetic heterogeneity lissencephaly, see LIS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LISSENCEPHALY 8; LIS8

High match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11; MDDGA11


Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with congenital muscular dystrophy resulting in muscle weakness early in life and brain and eye anomalies. It is usually associated with delayed psychomotor development and shortened life expectancy. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (summary by Stevens et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11; MDDGA11 Is also known as walker-warburg syndrome or muscle-eye-brain disease, b3galnt2-related

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Cataract
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11; MDDGA11

High match LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3; LSDMCA3


LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3; LSDMCA3 Is also known as linear skin defects with cardiomyopathy and other congenital anomalies

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3; LSDMCA3

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Other less relevant matches:

High match WARBURG MICRO SYNDROME 2; WARBM2


WARBURG MICRO SYNDROME 2; WARBM2 Is also known as micro syndrome 2

Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Cataract
  • Cryptorchidism
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about WARBURG MICRO SYNDROME 2; WARBM2

High match MICROPHTHALMIA, SYNDROMIC 12; MCOPS12


MICROPHTHALMIA, SYNDROMIC 12; MCOPS12 Is also known as microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MICROPHTHALMIA, SYNDROMIC 12; MCOPS12

High match HEART AND BRAIN MALFORMATION SYNDROME; HBMS


Heart and brain malformation syndrome is a severe autosomal recessive multiple congenital anomaly syndrome characterized by profoundly delayed psychomotor development, dysmorphic facial features, microphthalmia, cardiac malformations, mainly septal defects, and brain malformations, including Dandy-Walker malformation (summary by Shaheen et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HEART AND BRAIN MALFORMATION SYNDROME; HBMS

High match PIERPONT SYNDROME


Pierpont syndrome is a rare subcutaneous tissue disorder characterized by axial hypotonia after birth, prolonged feeding difficulties, moderate to severe global developmental delay, seizures (in particular absence seizures), fetal digital pads, distinctive plantar fat pads anteromedial to the heels, deep palmar and plantar grooves. Additionally, distinct craniofacial dysmorphic features, notably a broad face with high forehead, high anterior hairline, narrow palpebral fissures that take on a crescent moon shape when smiling, broad nasal bridge and tip with anteverted nostrils, mild midfacial hypoplasia, long, smooth philtrum, thin upper lip vermillion, small, widely spaced teeth and flat occiput/microcephaly/brachycephaly, are also chararteristic. Over time, fat pads may become less prominent and disappear.

PIERPONT SYNDROME Is also known as plantar lipomatosis, unusual facies, and developmental delay|plantar lipomatosis-facial dysmorphism-developmental delay syndrome|plantar lipomatosis-unusual facies-developmental delay syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PIERPONT SYNDROME

High match MICRO SYNDROME


Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.

MICRO SYNDROME Is also known as warbm|warburg micro syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICRO SYNDROME

High match WARBURG MICRO SYNDROME 3; WARBM3


Warburg Micro syndrome is a rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism (summary by Morris-Rosendahl et al., 2010).For a discussion of genetic heterogeneity of Warburg Micro syndrome, see {600118}.

WARBURG MICRO SYNDROME 3; WARBM3 Is also known as micro syndrome 3

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about WARBURG MICRO SYNDROME 3; WARBM3

High match SANJAD-SAKATI SYNDROME


Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome (see this term), the latter differs from SSS by its normal intelligence and skeletal features.

SANJAD-SAKATI SYNDROME Is also known as richardson-kirk syndrome|hrd syndrome|sanjad-sakati syndrome|hypoparathyroidism-intellectual disability-dysmorphism syndrome|hypoparathyroidism, congenital, associated with dysmorphism, growth retardation, and developmental delay|sss|hypoparathyroidism wi

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SANJAD-SAKATI SYNDROME

Top 5 symptoms//phenotypes associated to Microphthalmia and Muscular hypotonia of the trunk

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Microcephaly Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Hypoplasia of the corpus callosum Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Microphthalmia and Muscular hypotonia of the trunk. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Polymicrogyria Micropenis Brachycephaly Cryptorchidism Cataract Abnormal facial shape Macrotia Short nose Microcornea Micrognathia Depressed nasal bridge Growth delay Spasticity Optic atrophy Deeply set eye Failure to thrive Intrauterine growth retardation Flexion contracture Intellectual disability, severe Hypogonadism Short stature Wide nasal bridge Postnatal growth retardation Congenital cataract Posteriorly rotated ears Postnatal microcephaly Low anterior hairline Scrotal hypoplasia Spastic diplegia Anteverted nares Nystagmus Cerebellar vermis hypoplasia Ventriculomegaly Absent speech Lissencephaly

Rare Symptoms - Less than 30% cases


High forehead Cerebral cortical atrophy Elevated serum creatine phosphokinase Global brain atrophy Low-set, posteriorly rotated ears Aplasia/Hypoplasia of the corpus callosum Feeding difficulties Delayed speech and language development Ventricular septal defect Tetraplegia Decreased testicular size Everted lower lip vermilion Myopia Wide nose Hypoplasia of penis Spastic tetraplegia Frontoparietal polymicrogyria Hypoplastic labia minora Clitoral hypoplasia Hypertelorism Low-set ears High palate Visual impairment Cortical dysplasia Generalized myoclonic seizures Type II lissencephaly Prominent forehead Severe global developmental delay Peripheral neuropathy Short palm Short foot Severe muscular hypotonia Scoliosis Thin vermilion border Cerebellar hypoplasia Myopathy Hydrocephalus Muscular hypotonia Strabismus Broad face Long upper lip Broad philtrum Decreased muscle mass Generalized hirsutism Cerebral visual impairment Abnormality of retinal pigmentation Deep plantar creases High anterior hairline Pachygyria Deep palmar crease Abnormal peripheral nervous system morphology Large fleshy ears Ptosis Talipes equinovarus Cerebellar atrophy Glaucoma Hydronephrosis Joint stiffness Short philtrum Unilateral narrow palpebral fissure Wide nasal ridge Hypoplastic areola Delayed puberty Prominent median palatal raphe Hirsutism Abnormal cerebellum morphology Kyphosis Small scrotum Narrow mouth Upper limb spasticity Cerebellar vermis atrophy Intestinal obstruction Astigmatism Small hand Bifid uvula Delayed myelination Growth hormone deficiency Convex nasal ridge Hypocalcemia Recurrent bacterial infections Abnormality of dental enamel Spinal canal stenosis Corneal opacity External ear malformation Severe intrauterine growth retardation Hypoparathyroidism Hyperphosphatemia Decreased circulating cortisol level Tetany Aplasia/Hypoplasia affecting the eye Cellular immunodeficiency Hypocalcemic seizures Congenital hypoparathyroidism Small for gestational age Thin upper lip vermilion Abnormality of visual evoked potentials Intellectual disability, profound Severe postnatal growth retardation Retinal coloboma Abnormal localization of kidney Broad foot Clinodactyly of the 5th finger Kyphoscoliosis Blepharophimosis Peripheral axonal neuropathy Downturned corners of mouth Hypertrichosis Severe short stature Narrow palate External genital hypoplasia Ankle clonus Labial hypoplasia Shallow anterior chamber Frontal bossing Abnormality of the dentition Long philtrum Delayed skeletal maturation Recurrent respiratory infections Pendular nystagmus Cerebellar cyst Broad palm Cleft palate Abnormal myelination Overlapping toe Delayed ability to walk Hypoplastic labia majora Asymmetry of the ears Undetectable visual evoked potentials Occipital encephalocele Hypoplasia of the brainstem Encephalocele Cognitive impairment Dystonia Hernia Retrognathia Sparse hair Pulmonary hypoplasia Broad nasal tip Chorea Congenital diaphragmatic hernia Tetraparesis Muscle weakness Prominent nasal bridge Short chin Pericardial effusion Hypoplasia of the pons Congenital muscular dystrophy Cardiomyopathy Agenesis of corpus callosum Dilated cardiomyopathy Tachycardia Cardiac arrest Ventricular tachycardia Ventricular fibrillation Sclerocornea Blindness Dilation of lateral ventricles Cavum septum pellucidum Lacrimal duct atresia Histiocytoid cardiomyopathy Hyperpigmented streaks Optic nerve hypoplasia Leukoencephalopathy Retinal detachment Muscular dystrophy Short palpebral fissure Spastic tetraparesis Multiple lipomas Upslanted palpebral fissure Delayed CNS myelination Interrupted aortic arch Hand clenching Hearing impairment Short neck Hypertonia Malar flattening Midface retrusion Cerebellar dysplasia Prominent metopic ridge Telecanthus Joint laxity Smooth philtrum Full cheeks Wide intermamillary distance Narrow palpebral fissure Widely spaced teeth Infantile muscular hypotonia Flat occiput Widow's peak Hyperactive deep tendon reflexes Anophthalmia Abnormal cardiac septum morphology Bicornuate uterus Hypoplastic left atrium Hyperreflexia Cerebral atrophy Polyhydramnios Gastroesophageal reflux Cleft lip Camptodactyly Abnormality of the pinna Camptodactyly of finger Poor eye contact High, narrow palate Sepsis Brain atrophy Dandy-Walker malformation Narrow forehead Interphalangeal joint contracture of finger Thick lower lip vermilion Wide anterior fontanel Prominent occiput Patchy osteosclerosis



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