Generalized hypotonia, and Hydronephrosis

Diseases related with Generalized hypotonia and Hydronephrosis

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

Top matches:

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hypoplasia of the corpus callosum
  • Intellectual disability, mild


SOURCES: OMIM MENDELIAN

More info about VESICOURETERAL REFLUX 3; VUR3

GRIDHH is an autosomal recessive multisystem disorder characterized by intellectual disability, poor overall growth, hypotonia, and variable liver dysfunction. Additional features, such as seizures and hearing loss, may also be present (summary by Kopajtich et al., 2016).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY; GRIDHH

Autosomal dominant mental retardation-42 is a neurodevelopmental disorder characterized by global developmental delay and intellectual disability. More variable features include hypotonia, often later associated with limb hypertonia, seizures of various types, and poor overall growth. Strabismus, cortical visual impairment, and autistic features may also be present (summary by Petrovski et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 42; MRD42

Other less relevant matches:

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Abnormal facial shape
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 35; JBTS35

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is a autosomal recessive disorder associated with severe neurologic defects and resulting in early infantile death. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder 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 Buysse et al., 2013).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, 13; MDDGA13 Is also known as walker-warburg syndrome or muscle-eye-brain disease, b3gnt1-related

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Cryptorchidism
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13; MDDGA13

Basel-Vanagaite-Smirin-Yosef syndrome is an autosomal recessive multiple congenital anomaly disorder characterized by severely delayed psychomotor development resulting in mental retardation, as well as variable eye, brain, cardiac, and palatal abnormalities (summary by Basel-Vanagaite et al., 2015).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL CATARACT-MICROCEPHALY-NEVUS FLAMMEUS SIMPLEX-SEVERE INTELLECTUAL DISABILITY SYNDROME

Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type X is an autosomal recessive form characterized by multiple bone deformities and fractures, generalized osteopenia, dentinogenesis imperfecta, and blue sclera (Christiansen et al., 2010).

OSTEOGENESIS IMPERFECTA, TYPE X; OI10 Is also known as oi, type x

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE X; OI10

GDACCF is an intellectual disability syndrome apparent soon after birth with neonatal hypotonia, poor feeding, and respiratory insufficiency followed by delayed psychomotor development and intellectual disability with poor speech. Brain imaging shows aplasia or hypoplasia of the corpus callosum. Affected individuals have variable dysmorphic facial features, and some may have dysplastic, cystic kidneys or mild cardiac defects (summary by Stevens et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES; GDACCF

Cutis laxa is a collection of disorders that are typified by loose and/or wrinkled skin that imparts a prematurely aged appearance. Face, hands, feet, joints, and torso may be differentially affected. The skin lacks elastic recoil, in marked contrast to the hyperelasticity apparent in classic Ehlers-Danlos syndrome (see {130000}). These properties are nearly always attributable to loss, fragmentation, or severe disorganization of dermal elastic fibers (summary by Davidson and Giro, 2002).Patients with autosomal recessive cutis laxa type IC exhibit generalized cutis laxa in association with impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development (summary by Callewaert et al., 2013).For general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL AND URINARY ANOMALIES Is also known as urban-rifkin-davis syndrome|arcl1c|autosomal recessive cutis laxa type 1c|urds|cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Depressed nasal bridge


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL AND URINARY ANOMALIES

Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis is an X-linked recessive disorder with onset of features in early childhood. Anemia is sometimes present. Some patients may show mild early motor or speech delay, but cognition is normal (summary by Andreoletti et al., 2017).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS; MFHIEN

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Hydronephrosis

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Hypoplasia of the corpus callosum Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Generalized hypotonia and Hydronephrosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Joint laxity Strabismus Cleft palate Downslanted palpebral fissures Renal dysplasia Hypertelorism Short stature Micrognathia Midface retrusion Spasticity Malar flattening Growth delay Hearing impairment Patent ductus arteriosus

Rare Symptoms - Less than 30% cases

Ventriculomegaly Cataract Respiratory distress Epicanthus Retrognathia Pes planus Patent foramen ovale Recurrent urinary tract infections Sparse hair Dilatation Ptosis Talipes Depressed nasal bridge Anteverted nares Blindness Inguinal hernia Scarring Visual impairment Agenesis of corpus callosum Sensorineural hearing impairment Pyloric stenosis Renal cyst Talipes equinovarus Telecanthus Triangular face Failure to thrive Wide nasal bridge Scoliosis Short palpebral fissure Deep philtrum Narrow palate Flat occiput Pointed chin Hypoplastic left heart Delayed ability to walk Inverted nipples Low hanging columella Mitral valve prolapse Coarctation of aorta Hypermetropia Growth hormone deficiency Ureteropelvic junction obstruction High pitched voice Femoral bowing Thin ribs Shallow orbits Vertebral compression fractures Generalized joint laxity Broad ribs Chronic lung disease Dentinogenesis imperfecta Feeding difficulties Smooth philtrum Frontal bossing Respiratory insufficiency Abnormal heart morphology Upslanted palpebral fissure Coarse facial features Neonatal hypotonia Abnormality of the pinna Wide mouth Gastrointestinal dysmotility Poor speech Mitral stenosis Gastroesophageal reflux Broad columella Delayed eruption of teeth Short neck Clinodactyly Clinodactyly of the 5th finger Narrow mouth Thin upper lip vermilion Conductive hearing impairment Broad forehead Synophrys Thin vermilion border Joint hypermobility Flat face Bifid uvula Anemia Esotropia Dental crowding Finger clinodactyly Nephrocalcinosis Hypercalciuria Mixed hearing impairment Severe sensorineural hearing impairment Large forehead Elliptocytosis Broad distal phalanx of finger Mild conductive hearing impairment Delayed speech and language development Bronchomalacia Oval face Large fontanelles Narrow philtrum Infra-orbital crease Long philtrum Hernia Respiratory failure Macrotia Umbilical hernia Pulmonary hypoplasia Convex nasal ridge Sloping forehead Congenital diaphragmatic hernia Microretrognathia Rectal prolapse Sandal gap Cutis laxa Laryngomalacia Emphysema Prematurely aged appearance Tracheomalacia Pulmonary artery stenosis Premature skin wrinkling Peripheral pulmonary artery stenosis Bladder diverticulum Periorbital edema Increased susceptibility to fractures Micromelia Chronic kidney disease Progressive visual loss Cerebral visual impairment Limb hypertonia Impaired smooth pursuit Ataxia Iris coloboma Low-set ears Rod-cone dystrophy Nyctalopia Highly arched eyebrow Apraxia Delayed myelination Cerebellar vermis hypoplasia Multicystic kidney dysplasia Oculomotor apraxia Cone/cone-rod dystrophy Molar tooth sign on MRI Cryptorchidism Cognitive impairment Hydrocephalus Elevated serum creatine phosphokinase Cerebellar hypoplasia Hypsarrhythmia Polymicrogyria Muscular dystrophy Cholestasis Intrauterine growth retardation Elevated hepatic transaminase Chronic constipation Postnatal growth retardation Abnormality of the liver Hepatic failure Hepatic steatosis Full cheeks Round face Decreased liver function Attention deficit hyperactivity disorder CNS hypomyelination Hyperextensible skin Nystagmus Hydroureter Vesicoureteral reflux Hypertonia Hyperactivity Autism EEG abnormality Autistic behavior Micropenis Dandy-Walker malformation Relative macrocephaly Osteopenia Tented upper lip vermilion Sparse eyebrow Nevus flammeus Polyhydramnios Constipation Macrocephaly Intellectual disability, mild Prominent forehead High forehead Platyspondyly Microcornea Narrow chest Genu valgum Limb undergrowth Narrow forehead Blue sclerae Abnormal lung morphology Nephrolithiasis Wide anterior fontanel Wormian bones Coxa valga Nevus Everted lower lip vermilion Decreased testicular size Absent septum pellucidum Encephalocele Heterotopia Coloboma Opacification of the corneal stroma Severe muscular hypotonia Lissencephaly Congenital muscular dystrophy Hypoplasia of the brainstem Cortical dysplasia Occipital encephalocele Congenital cataract Anencephaly Retinal dysplasia Type II lissencephaly Renal cortical cysts Optic nerve dysplasia Muscular hypotonia of the trunk Kyphosis Hypospadias Abnormal cardiac septum morphology Short philtrum Cleft hard palate


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