Hydrocephalus, and Pes cavus

Diseases related with Hydrocephalus and Pes cavus

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

Top matches:

Autosomal recessive limb-girdle muscular dystrophy type 2M (LGMD2M) is a form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2M Is also known as muscular dystrophy, limb-girdle, autosomal recessive 13|lgmdr13|muscular dystrophy, limb-girdle, type 2m|lgmd2m

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Muscle weakness
  • Muscular hypotonia
  • Flexion contracture


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2M

High match MASA SYNDROME

MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). MASA is characterized by mild to moderate intellectual deficit, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles.

MASA SYNDROME Is also known as spastic paraplegia 1, x-linked|thumb, congenital clasped, with mental retardation|gareis-mason syndrome|intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome|clasped thumb and mental retardation|spg1|mental retardation, aphasia, shufflin

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MASA SYNDROME

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

Other less relevant matches:

High match KRABBE DISEASE

Krabbe disease is an autosomal recessive lysosomal disorder affecting the white matter of the central and peripheral nervous systems. Most patients present within the first 6 months of life with 'infantile' or 'classic' disease manifest as extreme irritability, spasticity, and developmental delay (Wenger et al., 2000). There is severe motor and mental deterioration, leading to decerebration and death by age 2 years. Approximately 10 to 15% of patients have a later onset, commonly differentiated as late-infantile (6 months to 3 years), juvenile (3 to 8 years), and even adult-onset forms. The later-onset forms have less disease severity and slower progression. These later-onset patients can be clinically normal until weakness, vision loss and intellectual regression become evident; those with adult onset may have spastic paraparesis as the only symptom. Disease severity is variable, even within families (summary by Tappino et al., 2010).

KRABBE DISEASE Is also known as gcl|galc deficiency|galactosylceramide beta-galactosidase deficiency|globoid cell leukodystrophy|galactocerebrosidase deficiency|globoid cell leukoencephalopathy|gld

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about KRABBE DISEASE

MARFAN SYNDROME TYPE 1 Is also known as aortic aneurysm, familial thoracic 3|marfan syndrome, type ii, formerly|mfs1|aat3

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MARFAN SYNDROME TYPE 1

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

Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.

INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME Is also known as primrose syndrome|ossified ear cartilages with mental deficiency, muscle wasting, and bony changes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME

Galloway syndrome is characterized by the association of nephrotic syndrome and central nervous system anomalies.

GALLOWAY-MOWAT SYNDROME Is also known as nephrosis-neuronal dysmigration syndrome|spinocerebellar ataxia, autosomal recessive 5, formerly|microcephaly, hiatal hernia, and nephrotic syndrome|scar5, formerly|galloway syndrome|cerebellar ataxia with mental retardation, optic atrophy, and skin abnor

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME

Medium match PETERS PLUS SYNDROME

Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism.

PETERS PLUS SYNDROME Is also known as peters anomaly with short-limb dwarfism|krause-kivlin syndrome|krause-van schooneveld-kivlin syndrome|peters anomaly with short limb dwarfism

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PETERS PLUS SYNDROME

Top 5 symptoms//phenotypes associated to Hydrocephalus and Pes cavus

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hearing impairment Talipes equinovarus Pectus excavatum Hypertonia Flexion contracture Visual impairment Scoliosis Spasticity Cognitive impairment Micrognathia Dilatation Ptosis Macrocephaly Gait disturbance Microcephaly Hyperreflexia Paraparesis Ventriculomegaly Kyphosis Agenesis of corpus callosum Neurodegeneration Spastic paraparesis Optic atrophy Hemiplegia/hemiparesis Cataract Nystagmus Ataxia Brachycephaly Corneal opacity Protruding ear Strabismus Brain atrophy Hypothyroidism Umbilical hernia Inguinal hernia Abnormal facial shape Hypertelorism Muscular hypotonia

Rare Symptoms - Less than 30% cases

Thick lower lip vermilion Osteopenia Peripheral neuropathy Arachnodactyly Feeding difficulties Severe short stature Cerebral atrophy Aortic regurgitation Dolichocephaly Joint laxity Retinopathy Craniosynostosis Tetraplegia Camptodactyly Intrauterine growth retardation Abnormal heart valve morphology Communicating hydrocephalus Spastic tetraplegia Broad forehead Abnormality of the pulmonary artery Growth delay Osteoporosis Malar flattening Hernia Brachydactyly Tetraparesis Clonus Spastic tetraparesis Striae distensae Ankle clonus Diffuse cerebral atrophy Joint contracture of the hand Horizontal nystagmus Irritability Cleft palate High palate Developmental regression Syndactyly Myopia Wide mouth Muscular hypotonia of the trunk Frontal bossing EEG abnormality Cerebral cortical atrophy Abnormality of the skeletal system Atrial septal defect Behavioral abnormality Vomiting Abnormality of the cerebral white matter Opacification of the corneal stroma Intellectual disability, progressive Abnormal cardiac septum morphology Decreased body weight Aqueductal stenosis Congenital hypothyroidism Hyperactive deep tendon reflexes Progressive spasticity Adducted thumb Cryptorchidism Anemia Anteverted nares Camptodactyly of finger Hypoplasia of the corpus callosum Babinski sign Clinodactyly of the 5th finger Intellectual disability, mild Intellectual disability, severe Hepatomegaly Microphthalmia Midface retrusion Motor deterioration Macrotia Conductive hearing impairment Prominent nasal bridge Frequent falls Lumbar hyperlordosis Falls Hyperlordosis Hyporeflexia Skeletal muscle atrophy Muscle weakness Hand clenching Delayed speech and language development Hepatosplenomegaly Congestive heart failure Splenomegaly Pallor Abnormality of the dentition Posterior polar cataract Self-injurious behavior Progressive gait ataxia Nephrotic syndrome Hypotelorism Oligohydramnios Narrow forehead Sloping forehead Dandy-Walker malformation Melanocytic nevus Hypsarrhythmia Prominent nose Premature birth Bilateral cryptorchidism Delayed myelination Limitation of joint mobility Chorea Absent axillary hair Gliosis Schizophrenia Broad face Abnormal palate morphology Gynecomastia Tics Sparse scalp hair Bone cyst Dystrophic fingernails Abnormal form of the vertebral bodies Thickened skin Heterotopia Pachygyria Recurrent ear infections Abnormal glucose tolerance Small nail Hypergonadotropic hypogonadism Knee flexion contracture Ectopic calcification Osteolysis Plagiocephaly Narrow iliac wings Ascites Metatarsus adductus Nephropathy Hypopigmentation of the skin Pneumonia Abnormality of the kidney Proteinuria Gastroesophageal reflux Calcification of the auricular cartilage Superiorly displaced ears Sparse body hair Irregular vertebral endplates Cerebellar hypoplasia Absent speech Abnormality of the eye Low-set ears Epicanthus Hip contracture Edema Restlessness Cerebellar atrophy Renal insufficiency Dystonia Increased size of the mandible Absent facial hair Sleep disturbance Abnormality of eye movement Insulin-resistant diabetes mellitus Anonychia Hematuria Inability to walk Talipes Truncal obesity Poor speech Mixed hearing impairment Abnormality of the foot Posterior scalloping of vertebral bodies Thoracic kyphosis Severe global developmental delay Basilar impression Small for gestational age Basal ganglia calcification Motor tics Poor coordination Torus palatinus Generalized osteoporosis Diaphragmatic eventration Postnatal microcephaly Rhizomelia Short metatarsal Abnormality of pelvic girdle bone morphology Disproportionate short-limb short stature Renal hypoplasia/aplasia Aplasia/Hypoplasia of the corpus callosum Sacral dimple Spina bifida occulta Hemivertebrae Multicystic kidney dysplasia Short toe Preauricular skin tag Wide anterior fontanel Short palpebral fissure Preauricular pit Decreased fetal movement Limb undergrowth Wide intermamillary distance Webbed neck Short metacarpal Round face Microcornea Single transverse palmar crease Short foot Iris coloboma Short palm Thin vermilion border Proximal placement of thumb Blurred vision Micromelia Mesomelic short stature Agenesis of maxillary lateral incisor Bilobate gallbladder Anterior chamber synechiae Intestinal fistula Square pelvis bone Facial hypertrichosis Aplasia/hypoplasia of the extremities Conical incisor Short lingual frenulum Hypoplasia of the vagina Birth length less than 3rd percentile Exaggerated cupid's bow Rieger anomaly Hypoplasia of the uterus Clitoral hypoplasia Limited elbow movement Biliary tract abnormality Ureteral duplication Peters anomaly Anterior hypopituitarism Retinal coloboma Hypoplastic labia majora Diastasis recti Stenosis of the external auditory canal Short columella Broad neck Cleft upper lip Smooth philtrum Progressive microcephaly Proportionate short stature Cerebral calcification Narrow nasal ridge Periorbital edema Abnormal renal physiology Spastic ataxia Tubular atrophy Esophagitis Mild microcephaly Aspiration pneumonia Adrenal hypoplasia Hiatus hernia Hypoplasia of the iris Abnormality of immune system physiology Axial dystonia Slender finger Abnormality of neuronal migration Focal segmental glomerulosclerosis Flat occiput Hypoplasia of the brainstem Glomerulosclerosis Hypoalbuminemia Chronic kidney disease Hyperkinesis Lissencephaly Severe muscular hypotonia Aspiration Diffuse mesangial sclerosis Abnormality of the intervertebral disk Anal atresia Prominent forehead Pulmonic stenosis Toe syndactyly Abnormality of the pinna Postnatal growth retardation Feeding difficulties in infancy Low-set, posteriorly rotated ears Cleft lip Hydronephrosis Thin upper lip vermilion Polyhydramnios Glaucoma Upslanted palpebral fissure Abnormal heart morphology Congenital nephrotic syndrome Clinodactyly Hypospadias Long philtrum Short nose Ventricular septal defect Depressed nasal bridge Projectile vomiting Thyroid dysgenesis Laryngospasm Hypoplasia of the ear cartilage Encephalomalacia Albuminuria Bradykinesia Intellectual disability, profound Hip dysplasia Decreased beta-glucocerebrosidase protein and activity Fever Sensorineural hearing impairment Failure to thrive Cardiovascular calcification Aortic arch calcification Abnormal common carotid artery morphology Hypometric horizontal saccades Slowed horizontal saccades Cardiac valve calcification Abnormality of toe Bacterial endocarditis Blindness Calcification of the aorta Elevated serum acid phosphatase Abnormal aortic arch morphology Spontaneous, recurrent epistaxis Supranuclear ophthalmoplegia Mitral valve calcification Corneal crystals Abnormal saccadic eye movements Aortic valve calcification Reticular hyperpigmentation Tremor Abnormality of metabolism/homeostasis Abnormal aortic valve morphology EMG abnormality Abnormality of the thumb Increased CSF protein Autoimmune thrombocytopenia Episodic fever Opisthotonus Global brain atrophy Postural tremor Hemiplegia Decreased nerve conduction velocity CNS hypomyelination Sensorimotor neuropathy Visual loss Leukodystrophy Progressive muscle weakness Optic disc pallor Peripheral demyelination Generalized myoclonic seizures Sensory neuropathy Mental deterioration Rigidity Reduced visual acuity Weight loss Recurrent respiratory infections Abnormal aortic morphology Abnormal mitral valve morphology Cloverleaf skull Gowers sign Moderately reduced ejection fraction Fatty replacement of skeletal muscle Hypoglycosylation of alpha-dystroglycan Abnormal glycosylation Neck flexor weakness Wolff-Parkinson-White syndrome Spinal rigidity Generalized amyotrophy Calf muscle hypertrophy Skeletal muscle hypertrophy Limb-girdle muscular dystrophy Reduced muscle fiber merosin Infantile muscular hypotonia Reduced tendon reflexes Scapular winging Waddling gait Tachycardia Dilated cardiomyopathy Muscular dystrophy Myalgia Proximal muscle weakness Elevated serum creatine phosphokinase Motor delay Muscle fiber hypertrophy Abnormality of the nervous system Foam cells Pancytopenia Supranuclear gaze palsy Mitral stenosis Abnormal EKG Exertional dyspnea Heart murmur Cachexia Oculomotor apraxia Aortic valve stenosis Mitral regurgitation Ventricular hypertrophy Cardiomegaly Spastic paraplegia Dry skin Ophthalmoplegia Generalized tonic-clonic seizures Respiratory distress Severe hydrocephalus Shuffling gait Down-sloping shoulders Aphasia Muscle stiffness Interphalangeal joint contracture of finger Paraplegia Demyelinating peripheral neuropathy Aplasia/Hypoplasia of the abdominal wall musculature Otitis media Corneal dystrophy Retinal fold Intestinal pseudo-obstruction Myelopathy Dysostosis multiplex Obstructive sleep apnea Papilledema Scaphocephaly Mild short stature Incoordination Sleep apnea Widely spaced teeth Urinary glycosaminoglycan excretion Exercise intolerance Elbow flexion contracture Hoarse voice Abnormality of retinal pigmentation Split hand Recurrent otitis media Progressive neurologic deterioration Hypertrichosis Pigmentary retinopathy Asthma Macroglossia Heparan sulfate excretion in urine Cervical cord compression Delayed eruption of teeth Aggressive behavior Nevus Hypoplasia of the maxilla Downturned corners of mouth Short distal phalanx of finger Distal amyotrophy Genu valgum Narrow chest Synophrys Congenital cataract Abnormal pyramidal sign Deeply set eye Tracheobronchomalacia Narrow mouth Autism Gait ataxia Diabetes mellitus Hypogonadism Areflexia Myopathy Downslanted palpebral fissures Neoplasm Dermatan sulfate excretion in urine Retinoschisis Postural instability Attention deficit hyperactivity disorder CNS demyelination Postaxial polydactyly Arnold-Chiari malformation Bicuspid aortic valve Narrow palate Exotropia Dental crowding Blue sclerae Mitral valve prolapse Chest pain Bifid uvula Recurrent fractures Joint hypermobility Aortic aneurysm Pectus carinatum Pes planus Retrognathia Proptosis Polydactyly Patent ductus arteriosus Pain Abnormal flash visual evoked potentials Unexplained fevers Decerebrate rigidity Abnormal nerve conduction velocity Ectopia lentis Myopathic facies Apnea Absent distal phalanges Coarse facial features Rod-cone dystrophy Diarrhea Cardiomyopathy Short neck Generalized arterial tortuosity Bicuspid pulmonary valve Spontaneous pneumothorax Descending thoracic aorta aneurysm Pulmonary artery aneurysm Ascending aortic dissection Disproportionate tall stature Mild myopia Protrusio acetabuli Dural ectasia Arterial tortuosity Thoracic aortic aneurysm Ascending tubular aorta aneurysm Dermal translucency Spondylolisthesis High anterior hairline Aortic dissection Dilatation of the cerebral artery Microtia, second degree


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