Hydrocephalus, and Decreased fetal movement

Diseases related with Hydrocephalus and Decreased fetal movement

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

Top matches:

High match FOWLER SYNDROME

The proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome is a rare, autosomal recessive, usually prenatally lethal disorder characterized by hydranencephaly, a distinctive glomerular vasculopathy in the central nervous system and retina, and diffuse ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications. It is usually diagnosed by ultrasound between 26 and 33 weeks' gestation (summary by Meyer et al., 2010). Rarely, affected individuals may survive, but are severely impaired with almost no neurologic development (Kvarnung et al., 2016).

FOWLER SYNDROME Is also known as epv|cerebral proliferative glomeruloid vasculopathy|fowler syndrome|proliferative vasculopathy and hydranencephaly/hydrocephaly|hydranencephaly, fowler type|hydrocephaly/hydranencephaly due to cerebral vasculopathy|encephaloclastic proliferative vasculopa

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about FOWLER SYNDROME

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 alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (summary by Roscioli et al., 2012).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, 7; MDDGA7 Is also known as walker-warburg syndrome or muscle-eye-brain disease, ispd-related

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Cataract
  • Low-set ears
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7; MDDGA7

Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 14 (CG14, equivalent to CGJ) have mutations in the PEX19 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER); PBD12A

Other less relevant matches:

Thanatophoric dysplasia, type 2 (TD2) is a form of TD (see this term) characterized by micromelia, straight long-bones, macrocephaly, brachydactyly, shortened ribs and a clover-leaf skull (kleeblattschaedel).

THANATOPHORIC DYSPLASIA TYPE 2 Is also known as thanatophoric dwarfism type 2|cloverleaf skull-micromelic bone dysplasia syndrome|thanatophoric dysplasia with kleeblattschaedel|thanatophoric dysplasia with straight femurs and cloverleaf skull|td2|cloverleaf skull with thanatophoric dwarfism|thanatophor

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Muscular hypotonia
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about THANATOPHORIC DYSPLASIA TYPE 2

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

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

Medium match OSTEOCRANIOSTENOSIS

Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization.

OSTEOCRANIOSTENOSIS Is also known as habrodysplasia|osteocraniostenosis|gracile bone dysplasia|skeletal dysplasia, lethal, with gracile bones|osteocraniosplenic syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about OSTEOCRANIOSTENOSIS

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

The fetal akinesia/hypokinesia sequence (or Pena-Shokeir syndrome type I) is characterized by multiple joint contractures, facial anomalies and pulmonary hypoplasia. Whatever the cause, the common feature of this sequence is decreased foetal activity.

FETAL AKINESIA DEFORMATION SEQUENCE Is also known as arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome|arthrogryposis multiplex congenita with pulmonary hypoplasia|fads|pena-shokeir syndrome type 1|fetal akinesia sequence|pena-shokeir syndrome, type i

Related symptoms:

  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about FETAL AKINESIA DEFORMATION SEQUENCE

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 Decreased fetal movement

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Macrocephaly Common - Between 50% and 80% cases
Polyhydramnios Common - Between 50% and 80% cases
Respiratory insufficiency Common - Between 50% and 80% cases
Depressed nasal bridge Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hydrocephalus and Decreased fetal movement. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Growth delay

Uncommon Symptoms - Between 30% and 50% cases

Cleft palate Global developmental delay Short stature Generalized hypotonia Brachydactyly Micromelia Ventriculomegaly Severe short stature Atrial septal defect Skeletal dysplasia Frontal bossing Hearing impairment Microcephaly Flexion contracture Limb undergrowth Intrauterine growth retardation Disproportionate short-limb short stature Scoliosis Kyphosis Polymicrogyria Prominent forehead Cloverleaf skull Flared metaphysis Patent ductus arteriosus Aplasia/Hypoplasia of the lungs Proptosis Redundant skin Wide anterior fontanel Abnormality of the metaphysis Hypertelorism Narrow chest Platyspondyly Short ribs Muscular hypotonia Fetal akinesia sequence Cryptorchidism Dandy-Walker malformation Ptosis Arthrogryposis multiplex congenita Cerebellar hypoplasia Intellectual disability Cataract Akinesia Skeletal muscle atrophy Low-set ears Micrognathia Hypokinesia

Rare Symptoms - Less than 30% cases

Aplasia/hypoplasia of the extremities High palate Abnormality of neuronal migration Short femur Metaphyseal irregularity Flat face Acanthosis nigricans Myopia Talipes equinovarus Hypoplastic ilia Fractures of the long bones Abnormality of the kidney Long philtrum Short palpebral fissure Abnormality of pelvic girdle bone morphology Thin ribs Hypospadias Small face High forehead Anteverted nares Clinodactyly Lethal skeletal dysplasia Bowing of the long bones Respiratory distress Multiple joint contractures Small for gestational age Camptodactyly of finger Joint stiffness Low-set, posteriorly rotated ears Kyphoscoliosis Respiratory failure Slender long bone Pulmonary hypoplasia Clinodactyly of the 5th finger Midface retrusion Wide-cupped costochondral junctions Small abnormally formed scapulae Small foramen magnum Lethal short-limbed short stature Short sacroiliac notch Severe short-limb dwarfism Increased nuchal translucency Short nose Severe platyspondyly Craniosynostosis Cystic hygroma Cholelithiasis Cerebral atrophy Agenesis of corpus callosum Hypoplasia of the brainstem Premature birth Lissencephaly Peters anomaly Visual impairment Microphthalmia Decreased body weight Areflexia Weak cry Dilatation Heterotopia Facial palsy Intellectual disability, profound Glaucoma Abnormal cortical bone morphology Encephalocele Pterygium Hydranencephaly Thoracic hypoplasia Rocker bottom foot Blepharophimosis Congenital contracture High, narrow palate Coarctation of aorta Absent septum pellucidum Generalized amyotrophy Abnormality of the male genitalia Fatigable weakness Elbow ankylosis Ventricular septal defect Optic atrophy Nystagmus Intestinal hypoplasia Absent palmar crease Small placenta Short umbilical cord Ulnar deviation of the hand or of fingers of the hand Anencephaly Thyroid hypoplasia Cavum septum pellucidum Ulnar deviation of the hand Overlapping fingers Excessive daytime somnolence Depressed nasal tip Abnormality of abdomen morphology Adrenal hypoplasia Posteriorly rotated ears Camptodactyly Ophthalmoparesis Neck muscle weakness Centrally nucleated skeletal muscle fibers Long fingers Mask-like facies Neonatal respiratory distress Myotonia Pyloric stenosis Facial diplegia Atrioventricular block Hemangioma Sleep apnea External ophthalmoplegia Severe muscular hypotonia Accelerated skeletal maturation Nephrocalcinosis Hypoventilation Head tremor Telecanthus Peripheral neuropathy Narrow mouth Polydactyly Syndactyly Abnormality of metabolism/homeostasis Edema Short neck Downslanted palpebral fissures Hepatic hemangioma Spherocytosis Respiratory failure requiring assisted ventilation Birth length greater than 97th percentile Slender toe Premature adrenarche Nocturnal hypoventilation Cavernous hemangioma Diaphragmatic eventration Intellectual disability, severe Upslanted palpebral fissure Pectus excavatum Blurred vision Retinal coloboma Hypoplastic labia majora Diastasis recti Stenosis of the external auditory canal Short columella Broad neck Hypoplasia of the uterus Preauricular pit Anterior hypopituitarism Proximal placement of thumb Short metatarsal Renal hypoplasia/aplasia Aplasia/Hypoplasia of the corpus callosum Sacral dimple Spina bifida occulta Intellectual disability, progressive Communicating hydrocephalus Ureteral duplication Multicystic kidney dysplasia Short lingual frenulum Agenesis of maxillary lateral incisor Bilobate gallbladder Anterior chamber synechiae Intestinal fistula Square pelvis bone Facial hypertrichosis Conical incisor Hypoplasia of the vagina Biliary tract abnormality Birth length less than 3rd percentile Exaggerated cupid's bow Mesomelic short stature Rieger anomaly Clitoral hypoplasia Limited elbow movement Abnormality of the pulmonary artery Hemivertebrae Short toe Abnormal heart morphology Conductive hearing impairment Protruding ear Abnormality of the pinna Postnatal growth retardation Feeding difficulties in infancy Cleft lip Joint laxity Hydronephrosis Thin upper lip vermilion Abnormal cardiac septum morphology Umbilical hernia Hypothyroidism Cerebral cortical atrophy Brachycephaly Narrow face Pes cavus Inguinal hernia Wide mouth Corneal opacity Preauricular skin tag Single transverse palmar crease Rhizomelia Wide intermamillary distance Webbed neck Short metacarpal Round face Brain atrophy Microcornea Short foot Toe syndactyly Iris coloboma Short palm Thin vermilion border Cleft upper lip Smooth philtrum Anal atresia Pulmonic stenosis EMG abnormality Inability to walk Decreased liver function Epiphyseal dysplasia Enlarged joints Flared iliac wings Hypoplasia of the odontoid process Abnormal joint morphology Short finger Muscular dystrophy Abnormal form of the vertebral bodies Rough bone trabeculation Osteoarthritis Interphalangeal joint contracture of finger Abnormality of the ribs Retinal detachment Peripheral axonal neuropathy Confusion Spondylometaphyseal dysplasia Thoracic kyphoscoliosis Large fontanelles Hypoplastic cervical vertebrae Long coccyx Abnormal metaphyseal vascular invasion Relatively short spine Snail-like ilia Flared humeral metaphysis Short diaphyses Flared femoral metaphysis Long thorax Anisospondyly Abnormal enchondral ossification Cervical instability Microtia Pseudoarthrosis Caudal appendage Abnormality of the intervertebral disk Pachygyria Optic nerve hypoplasia Halberd-shaped pelvis Scaphocephaly Holoprosencephaly Peripheral demyelination Hyperbilirubinemia Limitation of joint mobility Central hypotonia Joint hyperflexibility Double outlet right ventricle Sepsis Renal tubular dysfunction Delayed closure of the anterior fontanelle Periorbital fullness CNS demyelination Cranial asymmetry Elevated long chain fatty acids Cognitive impairment Prominent nose Triangular face Adducted thumb Agyria Congenital muscular dystrophy Partial agenesis of the corpus callosum Gonadal dysgenesis Retinal dysplasia Corpus callosum atrophy Type II lissencephaly Remnants of the hyaloid vascular system Hepatic failure Epicanthus Hepatomegaly Wide nasal bridge Elevated hepatic transaminase Occipital encephalocele Short thorax Neonatal hypotonia Dumbbell-shaped metaphyses Hyperplasia of the femoral trochanters Progressive muscle weakness Anemia Dysphagia Fatigue Gait disturbance Cerebral calcification Feeding difficulties Hypsarrhythmia Microretrognathia Mandibular prognathia Muscle weakness Hypoplastic spleen Overtubulated long bones Thin clavicles Ankyloglossia Decreased skull ossification Short hallux Myopathy Dyspnea Radial bowing Generalized muscle weakness Nephrolithiasis Hepatitis Hip dysplasia Waddling gait Dental malocclusion Abnormal bleeding Abnormality of the hairline Apnea Long face Arachnodactyly Lower limb muscle weakness Limb muscle weakness Ophthalmoplegia Dolichocephaly Paralysis Asplenia Severe intrauterine growth retardation Absent primary metaphyseal spongiosa Retrognathia Elevated serum creatine phosphokinase Motor delay Abnormal facial shape Failure to thrive Craniofacial dysostosis Excessive wrinkled skin Megalencephaly Pneumonia Femoral bowing Radioulnar synostosis Short long bone Deeply set eye Split hand Epidermal acanthosis Abnormality of the skeletal system Hypoplasia of the corpus callosum Micropenis Aniridia Ambiguous genitalia Hyperostosis Growth abnormality Hypocalcemia Cardiac arrest Progressive microcephaly Oligohydramnios Abdominal distention Osteopenia Ascites Recurrent fractures Limb joint contracture Multiple pterygia Short philtrum Severe hydrocephalus Coarse facial features Microtia, second degree


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