Hydrocephalus, and Talipes

Diseases related with Hydrocephalus and Talipes

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

Top matches:

Anencephaly is a neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days.

Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Talipes equinovarus
  • Hydrocephalus
  • Abnormality of cardiovascular system morphology


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED ANENCEPHALY/EXENCEPHALY

Related symptoms:

  • Cleft palate
  • Talipes equinovarus
  • Hydrocephalus
  • Polydactyly
  • Cleft lip


SOURCES: OMIM MESH MENDELIAN

More info about MECKEL SYNDROME, TYPE 6; MKS6

Related symptoms:

  • Short stature
  • Hydrocephalus
  • Pectus excavatum
  • Talipes
  • Situs inversus totalis


SOURCES: OMIM MENDELIAN

More info about SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE; SCDO4

Other less relevant matches:

NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterized by extreme microcephaly and growth restriction, severe motor delay and mental retardation, and typical radiological findings of gross dilation of the ventricles resulting from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum, and brainstem. Associated features are thin bones and scalp rugae.

NDE1-RELATED MICROHYDRANENCEPHALY Is also known as hydranencephaly and microcephaly|mhac

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Spasticity


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about NDE1-RELATED MICROHYDRANENCEPHALY

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

Medium 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

Spastic quadriplegia-52 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Abou Jamra et al., 2011). Some patients may have seizures (Hardies et al., 2015).

SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE; SPG52 Is also known as cerebral palsy, spastic quadriplegic, 6, formerly|cpsq6, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE; SPG52

Medium match FUHRMANN SYNDROME

Fuhrmann syndrome is mainly characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly.

FUHRMANN SYNDROME Is also known as fuhrmann syndrome|fuhrmann-rieger-de sousa syndrome|fibular hypoplasia or aplasia-femoral bowing-oligodactyly syndrome

Related symptoms:

  • Short stature
  • Flexion contracture
  • Abnormality of the skeletal system
  • Talipes equinovarus
  • Hydrocephalus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FUHRMANN SYNDROME

Laurin-Sandrow syndrome (LSS) is characterised by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported, and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested.

LAURIN-SANDROW SYNDROME Is also known as mirror hands and feets-nasal defects syndrome|tmip|mirror-image polydactyly|fibula and ulna, duplication of, with absence of tibia and radius|mip|mirror hands and feet with nasal defects|sandrow syndrome|tetramelic mirror-image polydactyly

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Muscular hypotonia
  • Cryptorchidism
  • Talipes equinovarus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LAURIN-SANDROW SYNDROME

1q21.1 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression characterized by macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis.

1Q21.1 MICRODUPLICATION SYNDROME Is also known as trisomy 1q21.1|dup(1)(q21.1)

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 1Q21.1 MICRODUPLICATION SYNDROME

Top 5 symptoms//phenotypes associated to Hydrocephalus and Talipes

Symptoms // Phenotype % cases
Talipes equinovarus Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Microcephaly Spasticity Flexion contracture Polydactyly Seizures Motor delay Hyperreflexia Ventriculomegaly Postaxial hand polydactyly Muscular hypotonia

Rare Symptoms - Less than 30% cases

Intellectual disability, severe Severe hydrocephalus Strabismus Hyperlordosis Scoliosis Toe syndactyly Pes cavus Cryptorchidism Hypoplasia of the corpus callosum Generalized amyotrophy Lumbar hyperlordosis Hypertonia Patellar aplasia Spastic tetraplegia Skeletal muscle atrophy Agenesis of corpus callosum Macrocephaly Finger syndactyly Postaxial polydactyly Syndactyly Spina bifida Anencephaly Prominent nose Cleft lip Paraplegia Hand polydactyly Spastic paraplegia Intellectual disability, mild Cleft palate Babinski sign Pectus excavatum Muscular hypotonia of the trunk Fibular aplasia Communicating hydrocephalus Highly arched eyebrow Hand oligodactyly Thick vermilion border Bulbous nose Aplasia/Hypoplasia of the ulna Neonatal hypotonia Apnea Absent toenail Short philtrum Aplasia/Hypoplasia involving the metacarpal bones Hypoplastic iliac wing Foot oligodactyly Aplasia/Hypoplasia of the fibula Wide mouth Hypoplastic pelvis Femoral bowing Radial bowing Facial hypotonia Abnormality of the skeletal system Simple febrile seizures Nail dysplasia Amenorrhea Limb undergrowth Bowing of the long bones Congenital hip dislocation Loss of ability to walk Spastic diplegia Oligodactyly Cerebral palsy Febrile seizures Focal-onset seizure Hypoplasia of the radius Tetraplegia Clinodactyly Short finger Ulnar deviation of finger Aplasia/hypoplasia of the femur Gliosis Aplasia/Hypoplasia of the phalanges of the hand Autism Rudimentary to absent tibiae Limb duplication Fibular duplication Mirror image polydactyly Failure to thrive Cataract Frontal bossing Atrial septal defect Behavioral abnormality Hypospadias Hyperactivity Glaucoma Gastroesophageal reflux Absent tibia Anxiety Intellectual disability, moderate Autistic behavior Attention deficit hyperactivity disorder Hip dislocation Arthrogryposis multiplex congenita Hip dysplasia Specific learning disability Tetralogy of Fallot Hallucinations Schizophrenia Relative macrocephaly Premature atrial contractions Abnormality of the nose Abnormal finger flexion creases Abnormality of the face Aplasia/Hypoplasia of metatarsal bones Coalescence of tarsal bones Aplasia/Hypoplasia of the 5th finger Dilatation Prominent forehead Thin vermilion border Downturned corners of mouth Short foot Limitation of joint mobility Underdeveloped nasal alae Depressed nasal ridge Heterotopia Aplasia/Hypoplasia of the corpus callosum Preaxial foot polydactyly Abnormality of the metacarpal bones Preaxial polydactyly Triphalangeal thumb Preaxial hand polydactyly Short middle phalanx of finger Hallux valgus Tarsal synostosis Aplasia/Hypoplasia of the thumb Absent radius Broad foot Short columella Abnormality of the wrist Coarse facial features Abnormality of the nervous system Absent speech Proptosis Missing ribs Myelomeningocele 11 pairs of ribs Neurogenic bladder Rib fusion Restrictive deficit on pulmonary function testing Block vertebrae Abnormality of the odontoid process Unilateral vertebral artery hypoplasia Cerebellar hypoplasia Macrotia Short thorax Prominent nasal bridge Small for gestational age Generalized myoclonic seizures Brain atrophy Sloping forehead Tetraparesis Pachygyria Knee flexion contracture Intellectual disability, progressive Poor head control Hypoplasia of the brainstem Restrictive ventilatory defect Dextrocardia Multiple joint contractures Neural tube defect Abnormality of cardiovascular system morphology Hernia Congenital diaphragmatic hernia Omphalocele Holoprosencephaly Aplasia/Hypoplasia of the cerebellum Abnormality of neuronal migration Primary adrenal insufficiency Abnormal lung lobation Calvarial skull defect Abnormality of the diaphragm Cleft upper lip Spina bifida occulta Oral cleft Pulmonary hypoplasia Renal cyst Encephalocele Hepatic fibrosis Occipital encephalocele Bile duct proliferation Abnormal internal genitalia Cystic liver disease Situs inversus totalis Hemivertebrae Athetosis Self-mutilation Wide nasal bridge Paraparesis Muscle fiber hypertrophy Reduced muscle fiber merosin Cognitive impairment Delayed speech and language development Gait disturbance Kyphosis Clinodactyly of the 5th finger Camptodactyly of finger Interphalangeal joint contracture of finger Muscle stiffness Spastic paraparesis Fatty replacement of skeletal muscle Adducted thumb Hemiplegia/hemiparesis Aphasia Progressive spasticity Hyperactive deep tendon reflexes Down-sloping shoulders Shuffling gait Aqueductal stenosis Hand clenching Hearing impairment High palate Moderately reduced ejection fraction Hypoglycosylation of alpha-dystroglycan Profound global developmental delay Waddling gait Hydranencephaly Growth delay Muscle weakness Hyporeflexia Elevated serum creatine phosphokinase Proximal muscle weakness Myalgia Muscular dystrophy Dilated cardiomyopathy Falls Tachycardia Frequent falls Abnormal glycosylation Scapular winging Reduced tendon reflexes Infantile muscular hypotonia Limb-girdle muscular dystrophy Gowers sign Skeletal muscle hypertrophy Calf muscle hypertrophy Spinal rigidity Motor deterioration Wolff-Parkinson-White syndrome Neck flexor weakness Constrictive median neuropathy


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Optic atrophy and Cholestasis, related diseases and genetic alterations Fever and Carious teeth, related diseases and genetic alterations