Global developmental delay, and Spina bifida

Diseases related with Global developmental delay and Spina bifida

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

Top matches:

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Cognitive impairment
  • Syndactyly


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 17; JBTS17

X-LINKED INTELLECTUAL DISABILITY WITH ISOLATED GROWTH HORMONE DEFICIENCY Is also known as mrgh

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY WITH ISOLATED GROWTH HORMONE DEFICIENCY

Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013). Craniosynostosis-6 is a bicoronal form associated with bony defects in the sagittal, metopic, or lambdoid sutures (Twigg et al., 2015).For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CRANIOSYNOSTOSIS 6; CRS6

Other less relevant matches:

Linear and whorled hypermelanosis (LWNH) is a benign skin condition characterized by onset in infancy of hyperpigmented regions composed of small light brown spots that coalesce with age and follow the lines of Blaschko on the trunk and limbs. The soles, palms, face, and mucous membranes are spared. The lesions are asymptomatic and progress with age; affected individuals have no accompanying extradermal features. There is no previous history of inflammation on affected areas (summary by Kalter et al., 1988).

BECKER NEVUS SYNDROME Is also known as pigmentary hairy epidermal nevus

Related symptoms:

  • Global developmental delay
  • Scoliosis
  • Kyphosis
  • Pectus excavatum
  • Autism


SOURCES: OMIM ORPHANET MENDELIAN

More info about BECKER NEVUS SYNDROME

VCRL1 is an autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal defects, and distal mild limb defects. Additional features are variable (summary by Shi et al., 2017). Genetic Heterogeneity of vertebral, cardiac, renal, and limb defects syndromeSee also VCRL2 (OMIM ), caused by mutation in the KYNU gene (OMIM ) on chromosome 2q22.

VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1; VCRL1 Is also known as 3-hydroxyanthranilic acidemia|congenital nad deficiency disorder 1

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1; VCRL1

Neurocutaneous melanocytosis (NCM) is a rare congenital neurological disorder characterized by abnormal aggregations of nevomelanocytes within the central nervous system (leptomeningeal melanocytosis) associated with large or giant congenital melanocytic nevi (CMN; see this term). NCM can be asymptomatic or present as variably severe and progressive neurological impairment, sometimes resulting in death.

NEUROCUTANEOUS MELANOCYTOSIS Is also known as neurocutaneous melanosis|neuromelanosis|ncm

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about NEUROCUTANEOUS MELANOCYTOSIS

Joubert syndrome-14 is an autosomal recessive developmental disorder characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign (MTS) on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features. Additional findings can include renal cysts, abnormal eye movements, and postaxial polydactyly (summary by Boycott et al., 2007 and Huang et al., 2011).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 14; JBTS14

Thauvin-Robinet-Faivre syndrome is an autosomal recessive disorder characterized by generalized overgrowth, mainly of height, and mildly delayed psychomotor development with mild or severe learning difficulties. More variable features may include congenital heart defects, kidney abnormalities, and skeletal defects. Patients may have an increased risk for Wilms tumor (summary by Akawi et al., 2016).

TALL STATURE-INTELLECTUAL DISABILITY-RENAL ANOMALIES SYNDROME Is also known as thauvin-robinet-faivre syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Neoplasm


SOURCES: ORPHANET OMIM MENDELIAN

More info about TALL STATURE-INTELLECTUAL DISABILITY-RENAL ANOMALIES SYNDROME

Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year.

AMISH LETHAL MICROCEPHALY Is also known as thiamine metabolism dysfunction syndrome 3 (microcephaly type)|amish lethal microcephaly|thmd3

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive
  • Micrognathia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AMISH LETHAL MICROCEPHALY

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (OMIM ), collectively known as 'dystroglycanopathies' (summary by Godfrey et al., 2007).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCLE-EYE-BRAIN DISEASE Is also known as meb syndrome|santavuori congenital muscular dystrophy|walker-warburg syndrome or muscle-eye-brain disease, pomgnt1-related|muscle-eye-brain syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MUSCLE-EYE-BRAIN DISEASE

Top 5 symptoms//phenotypes associated to Global developmental delay and Spina bifida

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Ventriculomegaly Uncommon - Between 30% and 50% cases
Strabismus Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Spina bifida occulta Muscular hypotonia Sensorineural hearing impairment Hydrocephalus Meningocele Dandy-Walker malformation Epicanthus Agenesis of corpus callosum Coloboma Ataxia Cerebellar vermis hypoplasia

Rare Symptoms - Less than 30% cases

Deeply set eye Neoplasm Nevus Hearing impairment Lissencephaly Severe global developmental delay Myoclonus Talipes Cerebellar hypoplasia Hypertonia Spinal dysraphism Seizures Micrognathia Optic atrophy Irritability Spasticity Hypertension EEG abnormality Aplasia/Hypoplasia of the cerebellum Midface retrusion Nystagmus Encephalocele Downslanted palpebral fissures Renal cyst Malar flattening Microphthalmia Abnormal facial shape Intellectual disability, severe High forehead Molar tooth sign on MRI Ptosis Abnormality of eye movement Intellectual disability, mild Scoliosis Abnormality of the eye Polydactyly Short stature Myelomeningocele Postaxial polydactyly Cognitive impairment Limitation of joint mobility Osteoporosis Enlarged cisterna magna Hypoplasia of the fovea Encephalopathy Limb hypertonia Partial agenesis of the corpus callosum Progressive microcephaly Acidosis Aciduria Decreased fetal movement Osteopenia Sloping forehead Muscular hypotonia of the trunk Syndactyly Hepatomegaly Lactic acidosis Metabolic acidosis Generalized tonic-clonic seizures Apraxia Feeding difficulties Tall stature Pes planus Protruding ear Astigmatism Thick vermilion border Neutropenia Macroglossia Round face Intestinal malrotation Overgrowth Mitral valve prolapse Renal dysplasia Nephroblastoma Flexion contracture Large hands Bowing of the legs Large for gestational age Enlarged kidney Long foot Varicose veins Retinal coloboma Long hallux Renal malrotation Bifid ureter Failure to thrive Dilation of lateral ventricles Decreased skull ossification Organic aciduria Cleft soft palate Retinal atrophy Severe muscular hypotonia Holoprosencephaly Aplasia/Hypoplasia of the corpus callosum Infantile muscular hypotonia Optic nerve hypoplasia Abnormality of the voice Congenital muscular dystrophy Hypoplasia of the brainstem Hemiplegia/hemiparesis Cortical dysplasia Congenital glaucoma Megalocornea EMG abnormality Retinal dysplasia Hypoplasia of the pons Undetectable electroretinogram Buphthalmos Decreased light- and dark-adapted electroretinogram amplitude Cerebellar dysplasia Type II lissencephaly Cerebellar cyst Hypoglycosylation of alpha-dystroglycan Uncontrolled eye movements Hypoplasia of the retina Short nasal bridge Opacification of the corneal stroma Pachygyria Inguinal hernia Elevated serum creatine phosphokinase Severe lactic acidosis Congenital microcephaly Temperature instability Small anterior fontanelle Muscle weakness Cataract Visual impairment Myopia Gait disturbance Hypoplasia of the corpus callosum Myopathy Dilatation Glaucoma Intellectual disability, profound Neonatal hypotonia Pallor Neurological speech impairment Muscular dystrophy Abnormality of the cerebral white matter Congenital cataract Abnormality of movement Retinal degeneration Polymicrogyria Everted lower lip vermilion Generalized muscle weakness High myopia Macrotia Talipes equinovarus Abnormal heart morphology Lipoma Hypoplastic labia minora Aplasia/Hypoplasia of the breasts Abnormality of the scrotum Hyperpigmented streaks Cleft palate Atrial septal defect Bifid uvula Renal hypoplasia Aortic valve stenosis Hypoplastic left heart Tracheomalacia Mitral stenosis Reticular hyperpigmentation Tethered cord Butterfly vertebrae Panhypopituitarism Absence of the sacrum Laryngotracheomalacia Hypoplastic sacrum Laryngeal web Hypopituitarism Adrenal insufficiency Aspiration Growth hormone deficiency Upper limb asymmetry Shoulder girdle muscle atrophy Behavioral abnormality Hypopigmentation of the skin Brachycephaly Low anterior hairline Plagiocephaly Delayed cranial suture closure Turricephaly Anterior plagiocephaly Kyphosis Pectus excavatum Autism Pectus carinatum Micromelia Cerebellar atrophy Supernumerary ribs Anorexia Eosinophilia Acne Supernumerary nipple Hypermelanotic macule Lipoatrophy Hamartoma Woolly hair Lower limb asymmetry Abnormality of tibia morphology Rib fusion Gastritis Delayed puberty Synophrys Hernia Highly arched eyebrow Severe short stature Low-set ears Long philtrum Wide nasal bridge High palate Absent speech Pneumonia Posteriorly rotated ears Intermittent hyperventilation Short philtrum Prominent nasal bridge Hyperventilation Growth delay Open mouth Tented upper lip vermilion Occipital encephalocele Multiple renal cysts Breathing dysregulation Morning glory anomaly Macrocephaly Abnormality of the skeletal system Ventricular septal defect Craniosynostosis Oculomotor apraxia Hypothyroidism Numerous congenital melanocytic nevi Abnormality of the nervous system Encephalitis Mental deterioration Hemiparesis Thickened skin Abnormality of retinal pigmentation Generalized hirsutism Cranial nerve paralysis Venous thrombosis Renal hypoplasia/aplasia Arnold-Chiari malformation Melanoma Increased intracranial pressure Intracranial hemorrhage Choroid plexus papilloma Chorioretinal coloboma Melanocytic nevus Intellectual disability, moderate Abnormality of neuronal migration Generalized hyperpigmentation Syringomyelia Arachnoid cyst Coarse facial features Spinal cord compression Meningioma Astrocytoma Papilloma Enlarged flash visual evoked potentials


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