Hypertelorism, and Polymicrogyria

Diseases related with Hypertelorism and Polymicrogyria

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


Top matches:

High match JOUBERT SYNDROME 32; JBTS32


JBTS32 is an autosomal recessive developmental disorder characterized by delayed psychomotor development, intellectual disability, dysmorphic facial features, and postaxial polydactyly. Brain imaging shows cerebellar abnormalities consistent with the molar tooth sign (MTS) (summary by De Mori et al., 2017).For discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 32; JBTS32

High 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

High 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

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Other less relevant matches:

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 13; MRD13


MRD13 is an autosomal dominant form of mental retardation associated with variable neuronal migration defects resulting in cortical malformations. More variable features include early-onset seizures and mild dysmorphic features. Some patients may also show signs of peripheral neuropathy, such as abnormal gait, hyporeflexia, and foot deformities (summary by Willemsen et al., 2012 and Poirier et al., 2013).

MENTAL RETARDATION, AUTOSOMAL DOMINANT 13; MRD13 Is also known as mental retardation, autosomal dominant 13, with neuronal migration defects

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 13; MRD13

High match CURRY-JONES SYNDROME


Curry-Jones syndrome is a form of syndromic craniosynostosis characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported.

CURRY-JONES SYNDROME Is also known as corpus callosum agenesis-polysyndactyly syndrome|craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CURRY-JONES SYNDROME

High match SRD5A3-CDG


SRD5A3-CDG is a rare, non X-linked congenital disorder of glycosylation due to steroid 5 alpha reductase type 3 deficiency characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions. Other reported manifestations include retinitis pigmentosa, kyphosis, congenital heart defects, hypertrichosis and abnormal coagulation.

SRD5A3-CDG Is also known as cdg1q|coloboma, ocular, with ichthyosis, brain malformations, and endocrine abnormalities|congenital disorder of glycosylation type iq|cdg-iq|congenital disorder of glycosylation type 1q|cdg syndrome type iq|cdg iq|cdgiq

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SRD5A3-CDG

High match CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID; ARCL2D


Autosomal recessive cutis laxa type IID (ARCL2D) is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial features. Most patients also exhibit severe hypotonia as well as cardiovascular and neurologic involvement (summary by Van Damme et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID; ARCL2D

High match MEGALENCEPHALY-POLYMICROGYRIA-POSTAXIAL POLYDACTYLY-HYDROCEPHALUS SYNDROME


Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome is characterized by megalencephaly, polymicrogyria, and hydrocephalus with variable polydactyly. It has been described in six unrelated patients. Intellectual deficit or slow development is also present. The mode of inheritance of this syndrome is unknown since all cases were sporadic.

MEGALENCEPHALY-POLYMICROGYRIA-POSTAXIAL POLYDACTYLY-HYDROCEPHALUS SYNDROME Is also known as meg-pmg-megacc syndrome|mpph syndrome|megalencephaly, polymicrogyria, mega corpus callosum syndrome|mpph|megalencephaly, mega corpus callosum, and complete lack of motor development

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MEGALENCEPHALY-POLYMICROGYRIA-POSTAXIAL POLYDACTYLY-HYDROCEPHALUS SYNDROME

High match CEDNIK SYNDROME


CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis.

CEDNIK SYNDROME Is also known as cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome|cednik syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CEDNIK SYNDROME

High match 6Q TERMINAL DELETION SYNDROME


6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about 6Q TERMINAL DELETION SYNDROME

Top 5 symptoms//phenotypes associated to Hypertelorism and Polymicrogyria

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Abnormal facial shape 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 Hypertelorism and Polymicrogyria. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Hypoplasia of the corpus callosum Nystagmus Delayed speech and language development Ventriculomegaly Depressed nasal bridge Cerebellar hypoplasia Short stature Brachycephaly Prominent forehead Intellectual disability, severe Pachygyria Failure to thrive Nephrotic syndrome Proteinuria Macrotia Visual impairment Motor delay Downslanted palpebral fissures Cortical dysplasia Polydactyly Micrognathia Macrocephaly

Rare Symptoms - Less than 30% cases


Spasticity Cutis laxa Talipes equinovarus Narrow palpebral fissure Postaxial polydactyly Cavum septum pellucidum Intellectual disability, mild Frontal bossing Coloboma Blepharophimosis Palmoplantar keratoderma Agenesis of corpus callosum Dolichocephaly Hearing impairment Focal-onset seizure Ichthyosis Low-set ears Hyperkeratosis Heterotopia Plagiocephaly Ptosis Ataxia Feeding difficulties Scoliosis Arachnodactyly Congestive heart failure Peripheral neuropathy Glomerulosclerosis Cataract Wide nasal bridge Large for gestational age Stage 5 chronic kidney disease Cerebral atrophy Focal segmental glomerulosclerosis Cerebellar atrophy Dysmetria Strabismus Cerebellar vermis hypoplasia Atrial septal defect Muscular hypotonia Ventricular septal defect Abnormal localization of kidney Abnormally large globe Abnormal nasal morphology Abnormal cardiac septum morphology Megalencephaly Dilation of lateral ventricles Postaxial hand polydactyly Thoracic scoliosis Intellectual disability, profound Mitral regurgitation Long palpebral fissure Infantile spasms Knee flexion contracture Disproportionate tall stature Muscular hypotonia of the trunk Vascular ring Sepsis Gliosis Convex nasal ridge Sloping forehead Pointed chin Focal impaired awareness seizure Mask-like facies Right bundle branch block Bundle branch block Entropion Telecanthus Wide nasal base Narrow naris Skeletal muscle atrophy Hydrocephalus Blindness Kyphosis Absent speech Narrow mouth High forehead Capillary malformation Palmoplantar hyperkeratosis Thick corpus callosum Short palpebral fissure Gait ataxia Joint laxity Low-set, posteriorly rotated ears Abnormality of the cerebral white matter Hypermetropia Thick vermilion border High, narrow palate Highly arched eyebrow Wide intermamillary distance Hypsarrhythmia Gynecomastia Hypospadias Low anterior hairline Infantile muscular hypotonia Abnormality of neuronal migration Hallux valgus Prominent metopic ridge Broad philtrum Colpocephaly Talipes calcaneovalgus Periventricular gray matter heterotopia Phimosis Aplasia/Hypoplasia of the ribs Clinodactyly Obesity Sensorineural hearing impairment Polyneuropathy Optic atrophy Abnormality of the dentition Areflexia Hypogonadism Abnormality of the eye Stroke Prominent nasal bridge Severe global developmental delay Abnormality of eye movement Long face Depressed nasal ridge Short neck Progressive microcephaly Short chin Intellectual disability, progressive Poor head control Abnormality of vision Bulbous nose Abnormality of peripheral nerve conduction Abnormal corpus callosum morphology Perisylvian polymicrogyria Diffuse palmoplantar keratoderma Optic disc hypoplasia Triangular face Abnormal heart morphology Protruding ear Toe walking Downturned corners of mouth Small hand Everted lower lip vermilion Tetraplegia Waddling gait Generalized-onset seizure Spastic tetraplegia Short toe Hypoplasia of the brainstem Broad palm Peripheral axonal neuropathy Syndactyly Microphthalmia Carcinoma Craniosynostosis Finger syndactyly Toe syndactyly Facial asymmetry Hirsutism Iris coloboma Inability to walk Abnormality of the foot Intestinal malrotation Growth delay Dysarthria Abnormal cerebellum morphology Apraxia Tall stature Oculomotor apraxia Molar tooth sign on MRI Elongated superior cerebellar peduncle Tapered finger Diffuse mesangial sclerosis High palate Wide mouth Intrauterine growth retardation Esotropia Narrow forehead Minimal change glomerulonephritis Gait disturbance Dysphagia Hyporeflexia Kyphoscoliosis Deeply set eye Microcornea Abnormality of the skin Camptodactyly Anterior pituitary hypoplasia Eczema Hypertrichosis Inflammatory abnormality of the skin Oligodontia Optic nerve hypoplasia Erythroderma Abnormality of coagulation Microcytic anemia Type I transferrin isoform profile Reduced antithrombin III activity Elevated hepatic transaminase Cryptorchidism Flexion contracture Cardiomyopathy Hernia Inguinal hernia Pneumonia Micropenis Retrognathia Hypertrophic cardiomyopathy Abnormality of skin pigmentation Visual loss Broad thumb Anal stenosis Horizontal nystagmus Generalized hirsutism Hypopigmented skin patches Bilateral ptosis Preaxial polydactyly Preaxial hand polydactyly Basal cell carcinoma Aplasia/Hypoplasia of the skin Cutaneous finger syndactyly Foot polydactyly Anemia Arnold-Chiari type I malformation Chronic constipation Optic nerve coloboma Medulloblastoma Anterior plagiocephaly Cutaneous syndactyly of toes Hemimegalencephaly Duplication of thumb phalanx Abnormality of thumb phalanx Abnormality of the cerebral cortex



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