Hydrocephalus, and Kyphoscoliosis

Diseases related with Hydrocephalus and Kyphoscoliosis

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

Top matches:

X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome is a rare X-linked syndromic intellectual disability disorder characterized by profound intellectual disability, global developmental delay with absent speech, seizures, large joint contractures, abnormal position of thumbs and middle-age onset of cardiomegaly and atrioventricular valve abnormalities, resulting in subsequent congestive heart failure. Additional features include variable facial dysmorphism (notably large ears with overfolded helix) and large testes.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Spasticity
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-CARDIOMEGALY-CONGESTIVE HEART FAILURE SYNDROME

Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR) is an autosomal recessive neurodevelopmental disorder characterized by large head and somatic overgrowth apparent at birth followed by global developmental delay. Affected individuals have characteristic dysmorphic facial features and persistently large head, but increased birth weight normalizes with age. Additional neurologic features, including seizures, hypotonia, and gait ataxia, may also occur. Patients show severe intellectual impairment (summary by Ortega-Recalde et al., 2015).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR

Medium match METATROPIC DYSPLASIA

Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood.

METATROPIC DYSPLASIA Is also known as metatropic dwarfism

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Cleft palate
  • Cataract


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about METATROPIC DYSPLASIA

Other less relevant matches:

Medium match CAMPOMELIC DYSPLASIA

Campomelic dysplasia is a very rare disorder characterised by a variable association of skeletal abnormalities (bowed and fragile long bones, pelvis and chest abnormalities, eleven rib pairs instead of the usual twelve), and extraskeletal abnormalities (facial dysmorphology, cleft palate, sexual ambiguity or sex reversal in two thirds of the affected boys, and brain, heart and kidney malformations).

CAMPOMELIC DYSPLASIA Is also known as campomelic dwarfism|cmpd1|cmpd|cmd1|cmpd1/sra1

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CAMPOMELIC DYSPLASIA

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

X-linked myotubular myopathy (XLMTM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

X-LINKED CENTRONUCLEAR MYOPATHY Is also known as x-linked myotubular myopathy|myotubular myopathy, x-linked|myotubular myopathy 1|xlmtm|mtmx|xlcnm|mtm1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED CENTRONUCLEAR MYOPATHY

Hajdu-Cheney syndrome is a rare autosomal dominant skeletal disorder characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies. Facial features include hypertelorism, bushy eyebrows, micrognathia, small mouth with dental anomalies, low-set ears, and short neck. There is progressive focal bone destruction, including acroosteolysis and generalized osteoporosis. Additional and variable features include hearing loss, renal cysts, and cardiovascular anomalies (summary by Ramos et al., 1998; Simpson et al., 2011; Isidor et al., 2011).

HAJDU-CHENEY SYNDROME; HJCYS Is also known as acroosteolysis with osteoporosis and changes in skull and mandible|sfpks|cheney syndrome|arthrodentoosteodysplasia|serpentine fibula-polycystic kidney syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Growth delay
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about HAJDU-CHENEY SYNDROME; HJCYS

Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly.

MARDEN-WALKER SYNDROME Is also known as mws

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MARDEN-WALKER SYNDROME

The Loeys-Dietz syndrome (LDS) is an autosomal dominant aortic aneurysm syndrome with widespread systemic involvement. As defined by Loeys et al. (2006), the disorder is characterized by the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Some patients have craniofacial involvement consisting of cleft palate, craniosynostosis, or hypertelorism. Bifid uvula may also be present. The natural history is characterized by aggressive arterial aneurysms and a high rate of pregnancy-related complications.LDS is also associated with immunologic-related disorders: approximately one-third of affected individuals exhibit food allergies, in contrast to a prevalence of 6 to 8% in the general population, and LDS patients have an increased prevalence of asthma, rhinitis, and eczema (summary by MacCarrick et al., 2014). NomenclatureIn initial reports, LDS patients, defined as those with mutations in TGFBR1 or TGFBR2, were stratified into 2 types, depending on severity of craniofacial features (type 1) or cutaneous features (type 2) (MacCarrick et al., 2014). Given that vascular disease is the major concern in LDS irrespective of the severity of systemic features, a revised nosology was proposed with sequential numbering corresponding to the gene mutant in each group (see below). Genetic Heterogeneity of Loeys-Dietz SyndromeLDS1 is caused by mutation in the TGFBR1 gene. LDS2 (OMIM ) is caused by mutation in the TGFBR2 gene (OMIM ). LDS3 (OMIM ), which is associated with early-onset osteoarthritis, is caused by mutation in the SMAD3 gene (OMIM ). LDS4 (OMIM ) is caused by mutation in the TGFB2 gene (OMIM ). LDS5 (OMIM ) is caused by mutation in the TGFB3 gene (OMIM ). ReviewsMacCarrick et al. (2014) provided a review of LDS, stating that there are no specific clinical criteria for the diagnosis, which is confirmed by molecular testing. They proposed that mutation in any of the 4 genes, TGFBR1, TGFBR2, SMAD3, or TGFB2, in combination with arterial aneurysm or dissection or a family history of documented LDS, should be sufficient to establish the diagnosis. The authors noted that rapidly progressive aortic aneurysmal disease is a distinct feature of LDS, and they discussed management strategies for cardiovascular issues as well as other complications of LDS.

LOEYS-DIETZ SYNDROME 1; LDS1 Is also known as aat5|aortic aneurysm, familial thoracic 5|loeys-dietz aortic aneurysm syndrome|furlong syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LOEYS-DIETZ SYNDROME 1; LDS1

Mucopolysaccharidosis type VII is an autosomal recessive lysosomal storage disease characterized by the inability to degrade glucuronic acid-containing glycosaminoglycans. The phenotype is highly variable, ranging from severe lethal hydrops fetalis to mild forms with survival into adulthood. Most patients with the intermediate phenotype show hepatomegaly, skeletal anomalies, coarse facies, and variable degrees of mental impairment (Shipley et al., 1993). MPS VII was the first autosomal mucopolysaccharidosis for which chromosomal assignment was achieved.

MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7 Is also known as beta-glucuronidase deficiency|mps vii|sly syndrome|gusb deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7

Top 5 symptoms//phenotypes associated to Hydrocephalus and Kyphoscoliosis

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Kyphosis Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hearing impairment Short neck Macrocephaly High palate Low-set ears Skeletal dysplasia Seizures Generalized hypotonia Flexion contracture Talipes equinovarus Short stature Micrognathia Mandibular prognathia Cleft palate High forehead Ventriculomegaly Arachnodactyly Abnormal facial shape Inguinal hernia Severe short stature Abnormality of the skeletal system Polyhydramnios Proptosis Depressed nasal bridge Dyspnea Abnormality of the face Anteverted nares Pectus carinatum Joint stiffness Postnatal growth retardation Joint laxity Respiratory insufficiency Umbilical hernia Coarse facial features Hernia Hypospadias Downslanted palpebral fissures Failure to thrive Muscular hypotonia Metatarsus adductus Long philtrum Epicanthus Posteriorly rotated ears Myopia Prominent forehead Cryptorchidism Frontal bossing Ptosis

Rare Symptoms - Less than 30% cases

Bowing of the long bones Conductive hearing impairment Cervical instability Hypoplastic cervical vertebrae Pulmonary hypoplasia Recurrent fractures Respiratory distress Hepatomegaly Abnormality of cardiovascular system morphology Abnormality of the sternum Joint contracture of the hand Growth delay Hydronephrosis Dilatation Talipes Apnea Webbed neck Facial asymmetry Short palpebral fissure Pterygium Multicystic kidney dysplasia Blepharophimosis Recurrent upper respiratory tract infections Edema Pyloric stenosis Myopathy Areflexia Paralysis Dolichocephaly Dental malocclusion Hip dysplasia Hirsutism Feeding difficulties Myotonia Thick eyebrow Mask-like facies Genu valgum Narrow mouth Patent ductus arteriosus Recurrent infections Skeletal muscle atrophy Dermatan sulfate excretion in urine Hyperactivity Mitral regurgitation Hepatosplenomegaly Aggressive behavior Ascites Macroglossia Bifid uvula Mitral valve prolapse Respiratory tract infection Heparan sulfate excretion in urine Long thorax Camptodactyly Retrognathia Distal arthrogryposis Thoracolumbar kyphosis Motor delay J-shaped sella turcica Pseudoarthrosis Wide anterior fontanel Thoracic kyphoscoliosis Lumbar hyperlordosis Interphalangeal joint contracture of finger Narrow chest Arthrogryposis multiplex congenita Platyspondyly Camptodactyly of finger Respiratory failure Clinodactyly of the 5th finger Midface retrusion Communicating hydrocephalus Long fingers Long face Abnormal form of the vertebral bodies Hyperlordosis Pes planus Cerebellar hypoplasia Malar flattening Cognitive impairment Multiple joint contractures Spastic tetraplegia Tetraplegia Macrotia Absent speech Spasticity Osteoarthritis Disproportionate tall stature Hypoplasia of the odontoid process Pulmonary artery aneurysm Spinal cord compression Foot acroosteolysis Basilar invagination Basilar impression Thoracic kyphosis Large sella turcica Scaphocephaly Thoracic aortic aneurysm Absent frontal sinuses Thoracolumbar scoliosis Hyperactive deep tendon reflexes Short nail Platybasia Biconcave vertebral bodies Soft skin Dysostosis multiplex Generalized osteoporosis Nonimmune hydrops fetalis Broad ribs Bilateral vocal cord paralysis Serpentine fibula Osteolytic defects of the phalanges of the hand Ventricular septal defect Spondyloepiphyseal dysplasia Micropenis Agenesis of corpus callosum Pectus excavatum Microphthalmia Intellectual disability, severe Hypoplasia of the corpus callosum Rhinitis Intrauterine growth retardation Crowded carpal bones Mild short stature Strabismus Dilatation of the cerebral artery Microcephaly Cheyne-Stokes respiration Abnormal heart valve morphology Elongated sella turcica Tall lumbar vertebral bodies Large earlobe Vocal cord paralysis Vertebral compression fractures Osteopenia Snoring Anterior beaking of lumbar vertebrae Joint hypermobility High anterior hairline Synophrys Abnormal cardiac septum morphology Protruding ear Telecanthus Decreased pulmonary function Narrow nose Osteoporosis Ascending tubular aorta aneurysm Spondylolisthesis Dermal translucency Proximal tapering of metacarpals Renal insufficiency Abnormality of the dentition Sagittal craniosynostosis Narrow greater sacrosciatic notches Prominent sternum Abnormality of the kidney Delayed cranial suture closure Radial bowing Premature loss of teeth Recurrent ear infections Proportionate short stature Pulmonary insufficiency Dislocated radial head Vertebral fusion Pathologic fracture Acetabular dysplasia Wide nose Osteolysis Narrow palpebral fissure Wormian bones Increased bone mineral density Abnormal vertebral morphology Long eyelashes Intestinal malrotation Full cheeks Renal cyst Aortic root aneurysm Widely spaced teeth Pleural effusion Fixed facial expression Thin vermilion border Short nose Broad forehead Craniosynostosis Clinodactyly Arnold-Chiari malformation Atrial septal defect Abnormal anatomic location of the heart Aplasia/Hypoplasia involving the skeletal musculature Bruising susceptibility Inferior vermis hypoplasia Zollinger-Ellison syndrome Abnormality of the penis Abnormality of the cerebellar vermis Congenital ptosis Limb joint contracture Epispadias Primitive reflex Arterial tortuosity Asthma Colpocephaly Cardiomyopathy Bicuspid aortic valve Generalized arterial tortuosity Multiple suture craniosynostosis Bicuspid pulmonary valve Cystic medial necrosis Microretrognathia Biconvex vertebral bodies Joint dislocation Hypertonia Postaxial hand polydactyly Intellectual disability, mild Finger clinodactyly Splenomegaly Exotropia Ascending aortic dissection Dural ectasia Unilateral ptosis Blue sclerae Eczema Abnormality of the upper urinary tract Restlessness Descending thoracic aorta aneurysm Broad-based gait Neurodegeneration Peripheral demyelination Hypertrichosis Specific learning disability Hallux valgus Long toe Dandy-Walker malformation Renal agenesis Gingival overgrowth Vertigo High, narrow palate Muscular dystrophy Hydrops fetalis Atrophic scars Cardiac arrest Attention deficit hyperactivity disorder Opacification of the corneal stroma Abnormality of the pinna Myopathic facies Poor speech Submucous cleft hard palate Abnormality of the urinary system Absent septum pellucidum Ectopia lentis Decreased muscle mass Hydroureter Dextrocardia Hypoplasia of the brainstem Congenital contracture Radioulnar synostosis Renal hypoplasia/aplasia Corneal opacity Aortic aneurysm Situs inversus totalis Arrhythmia Renal dysplasia Abnormality of the nervous system Hypertrophic cardiomyopathy Renal hypoplasia Muscular hypotonia of the trunk Intellectual disability, moderate Pain Abnormality of nasopharyngeal adenoids Hepatic hemangioma Short diaphyses Absent primary metaphyseal spongiosa Hyperplasia of the femoral trochanters Halberd-shaped pelvis Dumbbell-shaped metaphyses Long coccyx Abnormal metaphyseal vascular invasion Relatively short spine Snail-like ilia Flared humeral metaphysis Flared femoral metaphysis Hip dislocation Anisospondyly Abnormal enchondral ossification Severe platyspondyly Caudal appendage Abnormality of the intervertebral disk Rough bone trabeculation Spondylometaphyseal dysplasia Enlarged joints Flared iliac wings Abnormal cortical bone morphology Abnormal heart morphology Flat face Aplasia/Hypoplasia of the lungs Cystic hygroma Hypoplastic iliac wing Pierre-Robin sequence Male pseudohermaphroditism Shallow orbits Glossoptosis Tracheomalacia Fibular hypoplasia Gonadal dysgenesis Thin ribs Tibial bowing Ambiguous genitalia Femoral bowing Thoracic hypoplasia Bilateral talipes equinovarus Bowing of the legs Relative macrocephaly Laryngomalacia Short long bone Disproportionate short-limb short stature Short chin Depressed nasal ridge Fetal akinesia sequence Abnormal joint morphology Sex reversal Ataxia Triangular face Abnormal cerebellum morphology Prominent nasal bridge Difficulty walking Gait ataxia Cerebral cortical atrophy Upslanted palpebral fissure Cerebellar atrophy Delayed speech and language development Sclerotic vertebral endplates High myopia Contractures of the large joints Venous insufficiency Atrial flutter Abnormality of the thumb Macroorchidism Aortic valve stenosis Atrial fibrillation Intellectual disability, profound Cardiomegaly Congestive heart failure Overgrowth Tall stature Short finger Low-set, posteriorly rotated ears Akinesia Epiphyseal dysplasia Short ribs Abnormality of the metaphysis Abnormality of the ribs Limb undergrowth Peripheral axonal neuropathy Confusion Micromelia Brachydactyly Sparse eyebrow Cataract Severe expressive language delay Thick corpus callosum Long neck Expressive language delay Metopic synostosis Slender build Long foot Megalencephaly Large hands Hypoplastic scapulae 11 pairs of ribs Respiratory failure requiring assisted ventilation Generalized muscle weakness EMG abnormality Narrow face Decreased liver function Progressive muscle weakness Nephrolithiasis Decreased fetal movement Hepatitis Waddling gait Abnormal bleeding Inability to walk Accelerated skeletal maturation Lower limb muscle weakness Limb muscle weakness Ophthalmoplegia Facial palsy Dysphagia Fatigue Gait disturbance Anemia Muscle weakness Localized skin lesion Nephrocalcinosis Severe muscular hypotonia Focal seizures, afebril Facial diplegia Birth length greater than 97th percentile Slender toe Premature adrenarche Nocturnal hypoventilation Fractures of the long bones Cavernous hemangioma Diaphragmatic eventration Spherocytosis Head tremor Hypoventilation External ophthalmoplegia Neck muscle weakness Centrally nucleated skeletal muscle fibers Weak cry Hypokinesia Neonatal respiratory distress Ophthalmoparesis Cholelithiasis Atrioventricular block Hemangioma Sleep apnea Dysplastic aortic valve Intervertebral space narrowing Small face Shortening of all phalanges of fingers Cyanosis Limitation of joint mobility Tachycardia Developmental regression Behavioral abnormality Optic atrophy Shortening of all phalanges of the toes Poorly ossified cervical vertebrae Anterior tibial bowing Hypoplastic inferior ilia Pulmonary arterial hypertension Absent sternal ossification Small abnormally formed scapulae Hypoplasia of olfactory tract Tracheobronchomalacia Laryngotracheomalacia Abnormal external genitalia Abnormality of the sense of smell Neonatal short-limb short stature Narrow iliac wings Skin dimples Abnormality of the cardiovascular system Recurrent otitis media Abnormality of mucopolysaccharide metabolism Increased mean corpuscular volume Short digit Anisopoikilocytosis Urinary glycosaminoglycan excretion Morphological abnormality of the central nervous system Obstructive lung disease Abnormality of the optic disc Hyperplasia of the maxilla Hypochromic anemia Inspiratory stridor Beaking of vertebral bodies Thickened skin Edema of the lower limbs Abnormality of the skull Insomnia Protuberant abdomen Protruding tongue Pericardial effusion Heart murmur Increased intracranial pressure Tachypnea Progressive hearing impairment Anterior beaking of lower thoracic vertebrae


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intrauterine growth retardation and Skeletal dysplasia, related diseases and genetic alterations Tremor and Omphalocele, related diseases and genetic alterations Hydrocephalus and Hypoglycemia, related diseases and genetic alterations