Hydrocephalus, and Macroglossia

Diseases related with Hydrocephalus and Macroglossia

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

Top matches:

Lhermitte-Duclos disease (LDD) is a very rare disorder characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure.

LHERMITTE-DUCLOS DISEASE Is also known as dysplastic gangliocytoma of the cerebellum|ldd

Related symptoms:

  • Seizures
  • Ataxia
  • Macrocephaly
  • Hydrocephalus
  • Headache


SOURCES: ORPHANET MENDELIAN

More info about LHERMITTE-DUCLOS DISEASE

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' (van Reeuwijk et al., 2005).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, 2; MDDGA2 Is also known as walker-warburg syndrome or muscle-eye-brain disease, pomt2-related

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2; MDDGA2

Medium match ICF SYNDROME

The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9.

ICF SYNDROME Is also known as centromeric instability, immunodeficiency syndrome|immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16|ciid|immunodeficiency-centromeric instability-facial anomalies syndrome|immunodeficiency syndrome, variable

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICF SYNDROME

Other less relevant matches:

Lethal polymalformative syndrome, Boissel type is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by failure to thrive, severe developmental delay, severe postanatal microcephaly, frequent congenital cardiac defects and characteristic facial dysmorphysm (including coarse face with anteverted nostrils, thin vermillion, prominent alveolar ridge and retro- or micrognatia). Additional common features include neurologic abnormalities (hyper-/hypotonia, sensorineural deafness, hydrocephalus, cerebral atrophy, seizures), as well as brachydactyly, cutis marmorata and genital anomalies.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LETHAL POLYMALFORMATIVE SYNDROME, BOISSEL TYPE

Choroid plexus tumors are of neuroectodermal origin and range from benign choroid plexus papillomas (CPPs) to malignant choroid carcinomas (CPCs). These rare tumors generally occur in childhood, but have also been reported in adults. Patients typically present with signs and symptoms of increased intracranial pressure including headache, hydrocephalus, papilledema, nausea, vomiting, cranial nerve deficits, gait impairment, and seizures (summary by Safaee et al., 2013).

PAPILLOMA OF CHOROID PLEXUS; CPP Is also known as choroid plexus papilloma

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hypertelorism
  • Neoplasm
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about PAPILLOMA OF CHOROID PLEXUS; CPP

Tenorio syndrome is characterized by overgrowth, macrocephaly, and intellectual disability (ID). Some patients may have mild hydrocephaly, hypoglycemia, and inflammatory diseases resembling Sjogren syndrome (OMIM ) (summary by Tenorio et al., 2014).

TENORIO SYNDROME; TNORS Is also known as overgrowth, macrocephaly, and intellectual disability syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Delayed speech and language development


SOURCES: OMIM MENDELIAN

More info about TENORIO SYNDROME; TNORS

Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade.

MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM Is also known as mucopolysaccharidosis type ii, severe form|mps2a|iduronate 2-sulfatase deficiency type a|mucopolysaccharidosis type 2a|hunter syndrome type a|mpsiia|mucopolysaccharidosis type iia

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM

Lethal osteosclerotic bone dysplasia is defined by generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course.

LETHAL OSTEOSCLEROTIC BONE DYSPLASIA Is also known as raine syndrome|osteosclerotic bone dysplasia, lethal

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about LETHAL OSTEOSCLEROTIC BONE DYSPLASIA

Mucopolysaccharidosis II is a rare X-linked recessive disorder caused by deficiency of the lysosomal enzyme iduronate sulfatase, leading to progressive accumulation of glycosaminoglucans in nearly all cell types, tissues, and organs. Patients with MPS II excrete excessive amounts of chondroitin sulfate B (dermatan sulfate) and heparitin sulfate (heparan sulfate) in the urine (McKusick, 1972; Wraith et al., 2008).

MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2 Is also known as hunter syndrome|sulfoiduronate sulfatase deficiency|sids deficiency|mps ii|ids deficiency|iduronate 2-sulfatase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2

Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Clinical features and severity are variable, but usually include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism. Intelligence is usually normal (Azevedo et al., 2004).

MUCOPOLYSACCHARIDOSIS, TYPE VI; MPS6 Is also known as maroteaux-lamy syndrome|mps vi|n-acetylgalactosamine-4-sulfatase deficiency|arsb deficiency|arylsulfatase b deficiency

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Abnormal facial shape
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE VI; MPS6

Top 5 symptoms//phenotypes associated to Hydrocephalus and Macroglossia

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Macrocephaly Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Apnea Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hydrocephalus and Macroglossia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hearing impairment Umbilical hernia Anteverted nares Abnormal facial shape Sleep apnea Short stature Protruding tongue Low-set ears Depressed nasal bridge Short neck Coarse facial features Inguinal hernia Hypertrichosis Hypertelorism Cardiomyopathy Cryptorchidism Obstructive sleep apnea Hepatomegaly Pneumonia Dermatan sulfate excretion in urine Kyphosis Visual impairment Flexion contracture Hepatosplenomegaly Microcephaly Cleft palate Increased intracranial pressure Mandibular prognathia Abnormality of the skeletal system

Rare Symptoms - Less than 30% cases

Micrognathia Failure to thrive Splenomegaly Retinopathy Broad ribs Thickened skin Respiratory distress Communicating hydrocephalus Long philtrum Polymicrogyria Diarrhea Choanal stenosis Split hand Short nose Malar flattening Corneal opacity Recurrent infections Progressive neurologic deterioration Tetraparesis High forehead Papilledema Intrauterine growth retardation Spastic tetraplegia Neurodegeneration Osteopenia Tetraplegia Brachydactyly Dolichocephaly Recurrent upper respiratory tract infections Delayed cranial suture closure Spastic tetraparesis Respiratory insufficiency Edema Glaucoma Prominent forehead Respiratory failure Proptosis Intellectual disability, severe Ventriculomegaly Hydronephrosis Dyspnea Depressivity Growth delay Scoliosis Generalized hypotonia Midface retrusion Joint stiffness Hernia Abnormality of the cerebral white matter Recurrent otitis media Retinal fold Urinary glycosaminoglycan excretion Abnormal heart valve morphology Heparan sulfate excretion in urine Dysostosis multiplex Myelopathy Intellectual disability, profound Delayed eruption of teeth Cervical cord compression Retrognathia Lissencephaly Wide mouth Headache Micromelia Arthrogryposis multiplex congenita Highly arched eyebrow Pulmonary hypoplasia Protruding ear Microdontia Cerebral calcification Depressed nasal ridge Bulbous nose Downturned corners of mouth Localized skin lesion Narrow mouth Beaking of vertebral bodies Abnormality of the optic disc Hyperplasia of the maxilla Hypochromic anemia Inspiratory stridor Thoracolumbar kyphosis Increased mean corpuscular volume Edema of the lower limbs Obstructive lung disease Abnormality of the skull Tachypnea Insomnia Protuberant abdomen Distal arthrogryposis Pericardial effusion J-shaped sella turcica Morphological abnormality of the central nervous system Brachycephaly Abnormality of nasopharyngeal adenoids Posteriorly rotated ears Pectus excavatum Abnormality of the dentition Dysphagia Downslanted palpebral fissures High palate Progressive hearing impairment Anisopoikilocytosis Heart murmur Dysplastic aortic valve Bowing of the long bones Focal seizures, afebril Intervertebral space narrowing Abnormality of mucopolysaccharide metabolism Short digit Choanal atresia Alveolar ridge overgrowth Large fontanelles Hypothyroidism Decreased body weight Lumbar hyperlordosis Hip dysplasia Waddling gait Hirsutism Genu valgum Retinoschisis Opacification of the corneal stroma Tracheobronchomalacia Intestinal pseudo-obstruction Scaphocephaly Mild short stature Incoordination Corneal dystrophy Widely spaced teeth Aortic valve stenosis Accelerated skeletal maturation Intellectual disability, progressive Disproportionate short-trunk short stature Anterior wedging of L1 Hypoplastic acetabulae Cervical instability Cervical myelopathy Prominent sternum Constrictive median neuropathy Flared iliac wings Ovoid vertebral bodies Epiphyseal dysplasia Hypoplastic iliac wing Thoracic kyphosis Hypoplasia of the odontoid process Aseptic necrosis Spinal canal stenosis Metaphyseal irregularity Metaphyseal widening Aortic regurgitation Exercise intolerance Hypoplasia of dental enamel Hydroureter Median cleft lip and palate Gingival fibromatosis Generalized osteosclerosis Osteopetrosis Natal tooth Mixed hearing impairment Thoracic hypoplasia Hypophosphatemia Brachyturricephaly Elevated alkaline phosphatase Abnormality of the genitourinary system Plagiocephaly Narrow palate Increased bone mineral density Wide anterior fontanel Gingival overgrowth Long hallux Mandibular aplasia Elbow flexion contracture Rod-cone dystrophy Hoarse voice Abnormality of retinal pigmentation Thick lower lip vermilion Pigmentary retinopathy Asthma Postural instability Attention deficit hyperactivity disorder Severe short stature Bilateral choanal atresia Pes cavus Congestive heart failure Cognitive impairment Ptosis Hypoplastic nasal bridge Craniofacial disproportion Metaphyseal sclerosis Abnormality of the face Clumsiness Mitral regurgitation Anemia Malabsorption Respiratory tract infection Recurrent respiratory infections Hypospadias Immunodeficiency Epicanthus Moderate myopia Sepsis Persistent pupillary membrane Cerebellar cyst Type II lissencephaly Cerebellar dysplasia Peters anomaly Buphthalmos Flat face Decreased antibody level in blood Retinal atrophy Agammaglobulinemia Impaired T cell function Abnormality of neutrophils Decrease in T cell count Abnormality of chromosome stability Cellular immunodeficiency Chronic bronchitis Shawl scrotum Otitis media Bronchitis Combined immunodeficiency Malnutrition Recurrent pneumonia Lymphopenia Sinusitis Bronchiectasis Hypoplasia of the pons Abnormality of the periventricular white matter Wide nasal bridge Enlarged cerebellum Dilatation Microphthalmia Myopia Cataract Muscle weakness Trichilemmoma Fibroadenoma of the breast Cerebellar hypoplasia Neoplasm of the thyroid gland Acrokeratosis Ovarian neoplasm Hand polydactyly Cranial nerve paralysis Nausea and vomiting Papule Elevated serum creatine phosphokinase Neonatal hypotonia Spinal rigidity Severe muscular hypotonia Congenital glaucoma Skeletal muscle hypertrophy Hypoplasia of the brainstem Congenital muscular dystrophy Congenital contracture Aplasia/Hypoplasia of the corpus callosum Heterotopia Cleft lip Pachygyria Encephalocele Cerebellar vermis hypoplasia Cleft upper lip Congenital cataract Hypermetropia Muscular dystrophy Sensorineural hearing impairment Ventricular septal defect Pulmonary arterial hypertension Ataxia Hemihypertrophy Raynaud phenomenon Keratoconjunctivitis sicca Keratitis Cerebral palsy Conjunctivitis Overgrowth Stomatitis Syncope Wide nose Thick eyebrow Telecanthus Anxiety Hypoglycemia Gastroesophageal reflux Large forehead Recurrent aphthous stomatitis Intellectual disability, mild Postnatal growth retardation Mitral valve prolapse Abnormality of the cardiovascular system Cyanosis Limitation of joint mobility Ascites Tachycardia Developmental regression Cavum septum pellucidum Aggressive behavior Kyphoscoliosis Hyperactivity Behavioral abnormality Frontal bossing Optic atrophy Hypoinsulinemia Cerebral cortical atrophy Gait disturbance Hypoplasia of the corpus callosum Delayed myelination Failure to thrive in infancy Short chin Left ventricular hypertrophy Small nail Ventricular hypertrophy Dandy-Walker malformation Bifid uvula Severe failure to thrive Thin vermilion border Severe global developmental delay Hypertrophic cardiomyopathy Patent ductus arteriosus Obesity Absent speech Hypertonia Cutis marmorata Periorbital fullness Delayed speech and language development Loss of consciousness Choroid plexus carcinoma Choroid plexus papilloma Papilloma Osteosarcoma Broad neck Upper limb undergrowth Nausea Skull asymmetry Carcinoma Micropenis Vomiting Atrial septal defect Talipes equinovarus Feeding difficulties Neoplasm Anterior wedging of L2


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