Hydrocephalus, and Dyspnea

Diseases related with Hydrocephalus and Dyspnea

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

Top matches:

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' (Beltran-Valero de Bernabe et al., 2004).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, 5; MDDGA5 Is also known as walker-warburg syndrome or muscle-eye-brain disease, fkrp-related

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Cataract
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5; MDDGA5

Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy; see these terms).

PRIMARY CILIARY DYSKINESIA Is also known as ics|polynesian bronchiectasis|ciliary dyskinesia, primary, 1, with or without situs inversus|pcd|immotile cilia syndrome

Related symptoms:

  • Hearing impairment
  • Ventriculomegaly
  • Respiratory distress
  • Hydrocephalus
  • Headache


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRIMARY CILIARY DYSKINESIA

Steinert disease, also known as myotonic dystrophy type 1, is a muscle disease characterized by myotonia and by multiorgan damage that combines various degrees of muscle weakness, arrhythmia and/or cardiac conduction disorders, cataract, endocrine damage, sleep disorders and baldness.

STEINERT MYOTONIC DYSTROPHY Is also known as dm1|md1|myotonic dystrophy type 1|steinert disease

Related symptoms:

  • Strabismus
  • Muscular hypotonia
  • Cataract
  • Cryptorchidism
  • Skeletal muscle atrophy


SOURCES: ORPHANET MENDELIAN

More info about STEINERT MYOTONIC DYSTROPHY

Other less relevant matches:

Pfeiffer syndrome type 2 (PS2) is a frequent and severe type of Pfeiffer syndrome (PS; see this term), characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about PFEIFFER SYNDROME TYPE 2

Lymphangioleiomyomatosis (LAM) is a multiple cystic lung disease characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas (AMLs). LAM occurs either sporadically or as a manifestation of tuberous sclerosis complex (TSC).

LYMPHANGIOLEIOMYOMATOSIS Is also known as lam|lymphangiomyomatosis

Related symptoms:

  • Seizures
  • Pain
  • Cognitive impairment
  • Fever
  • Optic atrophy


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about LYMPHANGIOLEIOMYOMATOSIS

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hepatomegaly
  • Brachydactyly
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY; SRTD10

Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement.

GAUCHER DISEASE-OPHTHALMOPLEGIA-CARDIOVASCULAR CALCIFICATION SYNDROME Is also known as cardiovascular gaucher disease|gaucher-like disease|gaucher disease type 3c

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about GAUCHER DISEASE-OPHTHALMOPLEGIA-CARDIOVASCULAR CALCIFICATION SYNDROME

Holoprosencephaly-9 refers to a disorder characterized by a wide phenotypic spectrum of brain developmental defects, with or without overt forebrain cleavage abnormalities. It usually includes midline craniofacial anomalies involving the first branchial arch and/or orbits, pituitary hypoplasia with panhypopituitarism, and postaxial polydactyly. The disorder shows incomplete penetrance and variable expressivity (summary by Roessler et al., 2003 and Bertolacini et al., 2012).For general phenotypic information and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (OMIM ).

HOLOPROSENCEPHALY 9; HPE9 Is also known as holoprosencephaly with microphthalmia and first branchial arch anomalies|pituitary anomalies with holoprosencephaly-like features

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 9; HPE9

ALKKUCS is an autosomal recessive severe neurodevelopmental disorder characterized by arthrogryposis, brain abnormalities associated with cerebral parenchymal underdevelopment, and global developmental delay. Most affected individuals die in utero or soon after birth. Additional abnormalities may include hypotonia, dysmorphic facial features, and involvement of other organ systems, such as cardiac or renal. The few patients who survive have variable intellectual disability and may have seizures (summary by Gueneau et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ALKURAYA-KUCINSKAS SYNDROME; ALKKUCS

Thanatophoric dysplasia is a severe short-limb dwarfism syndrome that is usually lethal in the perinatal period. Norman et al. (1992) classified cases of TD into subtypes based on the presence of curved as opposed to straight femurs; patients with straight, relatively long femurs always had associated severe cloverleaf skull and were designated TD type II (TD2), while TD cases with curved, short femurs with or without cloverleaf skull were designated TD type I (TD1) (Langer et al., 1987).

THANATOPHORIC DYSPLASIA, TYPE I; TD1 Is also known as thanatophoric dysplasia|lethal short-limbed platyspondylic dwarfism, san diego type|thanatophoric dwarfism|td|platyspondylic lethal skeletal dysplasia, san diego type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about THANATOPHORIC DYSPLASIA, TYPE I; TD1

Top 5 symptoms//phenotypes associated to Hydrocephalus and Dyspnea

Symptoms // Phenotype % cases
Respiratory distress Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Ventriculomegaly Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Depressed nasal bridge Strabismus Hearing impairment Macrocephaly Short stature Respiratory insufficiency Cataract Oculomotor apraxia

Rare Symptoms - Less than 30% cases

Proptosis Communicating hydrocephalus Heart murmur Muscular hypotonia Cryptorchidism Hypertonia Heterotopia Short long bone Hypertelorism Low-set ears High palate Short nose Visual loss Cloverleaf skull Postaxial hand polydactyly Hypotelorism Micropenis Short ribs Microcephaly Cough Hepatomegaly Brachydactyly Abnormality of the skeletal system Ventricular septal defect Splenomegaly Polydactyly Cleft lip Oral cleft Postaxial polydactyly Abnormal lung morphology Malar flattening Abnormality of skin pigmentation Cerebellar hypoplasia Intellectual disability, profound Lissencephaly Hyporeflexia Ventricular hypertrophy Hypoplasia of the brainstem Aqueductal stenosis Microphthalmia Cerebellar dysplasia Dandy-Walker malformation Generalized hypotonia Corneal opacity Recurrent respiratory infections Cardiovascular calcification Aortic arch calcification Small face Midface retrusion Abnormal common carotid artery morphology Agenesis of corpus callosum Hypometric horizontal saccades Slowed horizontal saccades Macrotia Wide anterior fontanel Pulmonic stenosis Short philtrum Optic nerve hypoplasia Bilateral cleft lip and palate Skin tags Bilateral cleft lip Median cleft lip Partial agenesis of the corpus callosum Neurodevelopmental delay Anophthalmia Patent foramen ovale Holoprosencephaly Microtia Hemivertebrae Preauricular skin tag Coarctation of aorta Sloping forehead Growth hormone deficiency Dental malocclusion Hypoplasia of the maxilla Pulmonary hypoplasia Cardiac valve calcification Craniofacial dysostosis Lethal skeletal dysplasia Abnormal EKG Abnormal aortic morphology Abnormality of the pulmonary artery Abnormal aortic valve morphology Abnormal mitral valve morphology Foam cells Supranuclear gaze palsy Mitral stenosis Abnormal heart valve morphology Small foramen magnum Exertional dyspnea Cachexia Aortic regurgitation Opacification of the corneal stroma Horizontal nystagmus Aortic valve stenosis Decreased body weight Small abnormally formed scapulae Lethal short-limbed short stature Excessive wrinkled skin Elevated serum acid phosphatase Increased nuchal translucency Large forehead Abnormality of toe Decreased beta-glucocerebrosidase protein and activity Bacterial endocarditis Severe short-limb dwarfism Calcification of the aorta Abnormal aortic arch morphology Reticular hyperpigmentation Severe platyspondyly Spontaneous, recurrent epistaxis Supranuclear ophthalmoplegia Mitral valve calcification Short sacroiliac notch Corneal crystals Abnormal saccadic eye movements Aortic valve calcification Abnormal cortical gyration Median cleft lip and palate Panhypopituitarism Pleural effusion Disproportionate short-limb short stature Kinked brainstem Hand clenching Overlapping fingers Cystic hygroma Pericardial effusion Overlapping toe Adducted thumb Frontal bossing Scrotal hypoplasia Aplasia/Hypoplasia of the corpus callosum Redundant skin Radioulnar synostosis Metaphyseal irregularity Cutaneous syndactyly Plagiocephaly Growth delay Atrial septal defect Flared metaphysis Flat face Abnormality of the metaphysis Split hand Epidermal acanthosis Decreased fetal movement Limb undergrowth Acanthosis nigricans Polymicrogyria Micromelia Kyphosis Narrow chest Platyspondyly Joint stiffness Abnormality of the kidney Skeletal dysplasia Polyhydramnios Severe short stature Patent ductus arteriosus Abnormality of neuronal migration Apraxia Anterior pituitary hypoplasia Underdeveloped tragus Micrognathia Diastolic heart murmur Asymmetric ventricles Agenesis of incisor Anterior pituitary agenesis Short hard palate Single naris Hypoplasia of the premaxilla Flexion contracture Thoracic hemivertebrae Alobar holoprosencephaly Prominent antihelix Semilobar holoprosencephaly Hypoplastic ilia Single median maxillary incisor Wide cranial sutures Bowing of the long bones Abnormal facial shape Talipes equinovarus Webbed neck Posteriorly rotated ears Abnormality of the foot Abnormality of eye movement Hypermetropia Arthrogryposis multiplex congenita Camptodactyly Retrognathia Upslanted palpebral fissure Clinodactyly Anteverted nares Absent speech Behavioral abnormality Edema Femoral bowing Aplasia/Hypoplasia of the lungs Pancytopenia Megalencephaly Short femur Mitral regurgitation Cholestasis Cardiomegaly Chronic rhinitis Intellectual disability, severe Skeletal muscle atrophy Abnormal respiratory motile cilium morphology Crackles Absent frontal sinuses Immotile cilia Nasal polyposis Abnormal cornea morphology Facial palsy Chronic bronchitis Abdominal situs inversus Nasal obstruction Duodenal atresia Asplenia Polysplenia Chronic sinusitis Abnormality of cardiovascular system morphology Hip dislocation Bronchitis Hernia of the abdominal wall Short foot Small hand Anal atresia Toe syndactyly Finger syndactyly High forehead Cleft palate First degree atrioventricular block EMG abnormality Abnormal hair quantity Abnormality of the upper urinary tract Testicular atrophy Abnormality of the endocrine system Non-midline cleft lip Mask-like facies Myotonia Intellectual disability, progressive Recurrent sinusitis Male infertility Intestinal malrotation Abnormality of the cerebral white matter Hypoplasia of the pons Congenital muscular dystrophy Severe muscular hypotonia Left ventricular hypertrophy Pachygyria High myopia Retinal detachment Severe global developmental delay Cerebellar cyst Muscular dystrophy Coloboma Elevated serum creatine phosphokinase Dilatation Myopia Motor delay Feeding difficulties Type II lissencephaly Agyria Ciliary dyskinesia Recurrent otitis media Dextrocardia Neonatal respiratory distress Chronic otitis media Anosmia Situs inversus totalis Sinusitis Bronchiectasis Otitis media Severe hydrocephalus Dyskinesia Infertility Respiratory tract infection Conductive hearing impairment Rod-cone dystrophy Pneumonia Recurrent infections Headache Limitation of joint mobility Choanal atresia Dry skin Obesity Cerebellar vermis hypoplasia Retinal dystrophy Hepatic failure Stage 5 chronic kidney disease Retinal degeneration Genu valgum Nyctalopia Renal insufficiency Rhizomelia Blindness Chylopericardium Pulmonary lymphangiomyomatosis Cystic lung disease Ungual fibroma Retinal hamartoma Renal angiomyolipoma Short phalanx of finger Hepatic fibrosis Shagreen patch Spasticity Ophthalmoplegia Generalized tonic-clonic seizures Pallor Hepatosplenomegaly Brachycephaly Pes cavus Congestive heart failure Lateral clavicle hook Chronic kidney disease Thoracic dysplasia Cone-shaped epiphyses of the phalanges of the hand Bell-shaped thorax Nephronophthisis Visual field defect Thoracic hypoplasia Glucose intolerance Cone-shaped epiphysis Bronchiolitis obliterans Abnormal urinary color Broad thumb Pain Respiratory failure Abdominal pain Fatigue Optic atrophy Fever Cognitive impairment Deviation of the thumb Hematuria Hallux varus Broad hallux phalanx Short hallux Tracheomalacia Atresia of the external auditory canal Laryngomalacia Increased intracranial pressure Arnold-Chiari malformation Lymphadenopathy Ascites Abnormality of the lymphatic system Pulmonary infiltrates Chylothorax Bronchiolitis Pneumothorax Abnormality of female internal genitalia Atelectasis Renal neoplasm Multiple renal cysts Hemoptysis Chest pain Macule Restrictive ventilatory defect Emphysema Nephroblastoma Melanoma Lymphedema Myocardial infarction Gastrointestinal hemorrhage Wide-cupped costochondral junctions


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