Global developmental delay, and Glaucoma

Diseases related with Global developmental delay and Glaucoma

In the following list you will find some of the most common rare diseases related to Global developmental delay and Glaucoma that can help you solving undiagnosed cases.

Top matches:

Medium match PIERSON SYNDROME

Pierson syndrome is characterised by the association of congenital nephrotic syndrome and ocular anomalies with microcoria.

PIERSON SYNDROME Is also known as microcoria-congenital nephrotic syndrome|microcoria-congenital nephrosis syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Muscular hypotonia
  • Visual impairment
  • Edema


SOURCES: OMIM ORPHANET MENDELIAN

More info about PIERSON SYNDROME

Sturge-Weber syndrome is characterized by an intracranial vascular anomaly, leptomeningeal angiomatosis, most often involving the occipital and posterior parietal lobes. The most common symptoms and signs are facial cutaneous vascular malformations (port-wine stains), seizures, and glaucoma. Stasis results in ischemia underlying the leptomeningeal angiomatosis, leading to calcification and laminar cortical necrosis. The clinical course is highly variable and some children experience intractable seizures, mental retardation, and recurrent stroke-like episodes (review by Thomas-Sohl et al., 2004).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Cognitive impairment


SOURCES: OMIM MENDELIAN

More info about STURGE-WEBER SYNDROME; SWS

Autosomal recessive spastic paraplegia type 45 is a rare, pure or complex form of hereditary spastic paraplegia characterized by onset in infancy of progressive lower limb spasticity, abnormal gait, increased deep tendon reflexes and extensor plantar responses, that may be associated with intellectual disability. Additional signs, such as contractures in the lower limbs, amyotrophy, clubfoot and optic atrophy, have also been reported.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 45 Is also known as autosomal recessive spastic paraplegia type 65|spg45|spg65

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 45

Other less relevant matches:

Autosomal recessive spastic paraplegia type 75 is a rare, complex hereditary spastic paraplegia characterized by an early onset and slow progression of spastic paraplegia associated with cerebellar signs, nystagmus, peripheral neuropathy, extensor plantar responses and borderline to mild intellectual disability. Additional features of hypo- or areflexia, mild upper limb involvement and significant visual impairment (optic atrophy, vision loss, astigmatism) have been reported.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 75 Is also known as spg75

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 75

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, and congenital muscular dystrophy. The phenotype includes the alternative clinical designation Walker-Warburg syndrome (WWS), which is associated with death in infancy. 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 Geis et al., 2013 and Riemersma et al., 2015).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, 9; MDDGA9 Is also known as walker-warburg syndrome or muscle-eye brain disease, dag1-related

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Muscular hypotonia
  • Cataract


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9; MDDGA9

Medium match NANCE-HORAN SYNDROME

Nance-Horan syndrome (NHS) is characterized by the association in male patients of congenital cataracts with microcornea, dental anomalies and facial dysmorphism.

NANCE-HORAN SYNDROME Is also known as cataract-dental syndrome|mesiodens-cataract syndrome|cataract, x-linked, with hutchinsonian teeth

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Nystagmus
  • Strabismus
  • Cataract


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NANCE-HORAN SYNDROME

Medium match SECKEL SYNDROME

Seckel syndrome is a type of microcephalic primordial dwarfism that is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly, a typical dysmorphic face (bird-like), and mild to severe intellectual disability.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Micrognathia


SOURCES: ORPHANET MENDELIAN

More info about SECKEL SYNDROME

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE; MCPH16

Anterior segment dysgeneses (ASGD or ASMD) are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by Cheong et al., 2016).Anterior segment dysgenesis is sometimes divided into subtypes including aniridia (see {106210}), Axenfeld and Rieger anomalies, iridogoniodysgenesis, Peters anomaly, and posterior embryotoxon (Gould and John, 2002).Some patients with ASGD1 have been reported with the Peters anomaly subtype.In its simplist form, Peters anomaly involves a central corneal opacity, but it may also involve adherent iris strands. Some patients have keratolenticular content or cataract. The underlying defects in this form of congenital corneal opacity reside in the posterior stroma, Descemet membrane, and corneal endothelium. The disorder results from abnormal migration or function of neural crest cells and may include abnormalities of other anterior segment structures, such as the lens and iris (summary by Withers et al., 1999).

ANTERIOR SEGMENT DYSGENESIS 1; ASGD1 Is also known as anterior segment mesenchymal dysgenesis|asmd|anterior segment ocular dysgenesis|asod

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about ANTERIOR SEGMENT DYSGENESIS 1; ASGD1

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, 12; MDDGA12 Is also known as walker-warburg syndrome or muscle-eye-brain disease, pomk-related

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12; MDDGA12

Top 5 symptoms//phenotypes associated to Global developmental delay and Glaucoma

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
Cataract Uncommon - Between 30% and 50% cases
Myopia Uncommon - Between 30% and 50% cases
Nystagmus Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Global developmental delay and Glaucoma. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Cognitive impairment Generalized hypotonia Short stature Seizures Strabismus Spasticity Flexion contracture Visual impairment Abnormality of the cerebral white matter Behavioral abnormality Hydrocephalus Macrocephaly Ptosis Ventriculomegaly Buphthalmos Microphthalmia Reduced visual acuity

Rare Symptoms - Less than 30% cases

Agenesis of corpus callosum High myopia Poor head control Leukodystrophy Intellectual disability, moderate Neonatal hypotonia Lissencephaly Cerebellar vermis hypoplasia Muscular hypotonia Optic atrophy Babinski sign Hypoplasia of the corpus callosum Pendular nystagmus Spastic paraplegia Paraplegia Congenital muscular dystrophy Elevated serum creatine phosphokinase Spastic gait Knee flexion contracture Muscular dystrophy Corneal opacity Abnormal cerebellum morphology Micrognathia Sensorineural hearing impairment Areflexia Congenital cataract Narrow face Scoliosis Visual loss Polymicrogyria Blindness Severe vision loss Agyria Arnold-Chiari malformation Microcornea Hypoplasia of the iris Abnormality of the dentition Sloping forehead Joint hyperflexibility Tetraplegia Craniosynostosis Clinodactyly of the 5th finger Delayed skeletal maturation Spastic tetraplegia Open mouth Decreased body weight Drooling Adducted thumb Cortical gyral simplification Downslanted palpebral fissures Abnormality of skin pigmentation Congestive heart failure Telecanthus Cone-shaped epiphysis Absent earlobe Intrauterine growth retardation Screwdriver-shaped incisors Abnormality of earlobe Mild global developmental delay Prematurely aged appearance Cachexia Hip dysplasia Cryptorchidism Reduced number of teeth Sandal gap Anemia Abnormality of dental enamel Sparse scalp hair Convex nasal ridge Muscle fibrillation Increased intraocular pressure Atrial septal defect Poor speech Abnormality of the sense of smell Axenfeld anomaly Aphakia Macular hypopigmentation Hearing impairment Muscle weakness Feeding difficulties Cerebellar hypoplasia Polyhydramnios Coloboma Severe global developmental delay Retinal degeneration Rieger anomaly Bilateral sensorineural hearing impairment Encephalocele Progressive microcephaly Respiratory insufficiency due to muscle weakness CNS hypomyelination Hypoplasia of the brainstem Occipital encephalocele Hypoventilation Abnormally large globe Retinal coloboma Type II lissencephaly Polycoria Aplasia/Hypoplasia of the iris Umbilical hernia Posterior embryotoxon Photophobia Short palpebral fissure Abnormality of the genital system Opacification of the corneal stroma Aplasia/Hypoplasia of the corpus callosum Optic nerve hypoplasia Ectopia lentis Keratitis Keratoconus Keratoconjunctivitis sicca Aniridia Iris hypopigmentation Posterior polar cataract Posterior Y-sutural cataract Sclerocornea Corneal erosion Ectopia pupillae Optic nerve coloboma Abnormality of the optic nerve Corneal neovascularization Anterior segment developmental abnormality Peters anomaly Abnormality of the hypothalamus-pituitary axis Anterior synechiae of the anterior chamber Macular hypoplasia Supernumerary maxillary incisor Cerebellar cyst Mesiodens Talipes equinovarus Nevus flammeus Abnormality of the vasculature Stroke-like episode Facial hemangioma Choroidal hemangioma Arachnoid hemangiomatosis Motor delay Hyperreflexia Gait disturbance Lower limb spasticity Hemangioma Ankle contracture Urinary bladder sphincter dysfunction Genu recurvatum Flexion contracture of toe Dysplastic corpus callosum Peripheral neuropathy Dysarthria Cerebellar atrophy Hypertonia Congenital glaucoma Cafe-au-lait spot Difficulty walking Diffuse mesangial sclerosis Edema Renal insufficiency Proteinuria Abnormality of the nervous system Stage 5 chronic kidney disease Nephrotic syndrome Severe muscular hypotonia Neurodevelopmental delay Hypoproteinemia Congenital nephrotic syndrome Hemiparesis Lenticonus Microcoria Posterior lenticonus Hypoplasia of the ciliary body Cerebral cortical atrophy EEG abnormality Mental deterioration Stroke Nevus Hyporeflexia Abnormal pyramidal sign Sutural cataract Prominent nose Autism Mandibular prognathia Macrotia Protruding ear Autistic behavior Prominent nasal bridge Long face Retinal detachment Short metacarpal Short phalanx of finger Intellectual disability, profound Widely spaced teeth Hypophosphatemia Blurred vision Narrow nasal bridge Increased number of teeth Anodontia Diastema Broad finger Multiple impacted teeth Holoprosencephaly Cerebral calcification Hypermetropia Spastic dysarthria Astigmatism Dysmetria Neurodegeneration Clonus Paraparesis Spastic paraparesis Impaired vibratory sensation Distal lower limb amyotrophy Corpus callosum atrophy Areflexia of lower limbs Retinal dystrophy Titubation Hyporeflexia of lower limbs Impaired distal vibration sensation Temporal optic disc pallor Intellectual disability, severe Myopathy Dilatation Absent speech Respiratory failure Cortical cataract


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