Muscular hypotonia, and Hypospadias

Diseases related with Muscular hypotonia and Hypospadias

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


Top matches:

Low match GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES; GRDF


Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Cryptorchidism
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES; GRDF

Low match LEUKOENCEPHALOPATHY-THALAMUS AND BRAINSTEM ANOMALIES-HIGH LACTATE SYNDROME


Leukoencephalopathy-thalamus and brainstem anomalies-high lactate (LTBL) syndrome is a rare, genetic neurological disorder defined by early-onset of neurologic symptoms, biphasic clinical course, unique MRI features (incl. extensive, symmetrical, deep white matter abnormalities), and increased lactate in body fluids. The severe form is characterized by delayed psychomotor development, seizures, early-onset hypotonia, and persistently increased lactate levels. The mild form usually presents with irritability, psychomotor regression after six months of age, and temporary high lactate levels, with overall clinical improvement from the second year onward.

LEUKOENCEPHALOPATHY-THALAMUS AND BRAINSTEM ANOMALIES-HIGH LACTATE SYNDROME Is also known as coxpd12|combined oxidative phosphorylation defect type 12|ltbl|leukoencephalopathy with thalamus and brainstem involvement and high lactate

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Cleft palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about LEUKOENCEPHALOPATHY-THALAMUS AND BRAINSTEM ANOMALIES-HIGH LACTATE SYNDROME

Low match MENTAL RETARDATION, X-LINKED 106; MRX106


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 106; MRX106

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Other less relevant matches:

Low match SEVERE CONGENITAL NEMALINE MYOPATHY


Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM; see this term) characterized by severe hypotonia with little spontaneous movement in neonates.

Related symptoms:

  • Low-set ears
  • Flexion contracture
  • Motor delay
  • Skeletal muscle atrophy
  • Dysphagia


SOURCES: ORPHANET MENDELIAN

More info about SEVERE CONGENITAL NEMALINE MYOPATHY

Low match STANKIEWICZ-ISIDOR SYNDROME; STISS


Stankiewicz-Isidor syndrome (STISS) is a neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild craniofacial anomalies, and variable congenital defects of the cardiac and/or urogenital systems (summary by Kury et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about STANKIEWICZ-ISIDOR SYNDROME; STISS

Low match CONGENITAL CATARACT-MICROCEPHALY-NEVUS FLAMMEUS SIMPLEX-SEVERE INTELLECTUAL DISABILITY SYNDROME


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

Low match ACROCALLOSAL SYNDROME


Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit.

ACROCALLOSAL SYNDROME Is also known as acs

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACROCALLOSAL SYNDROME

Low match IMAGE SYNDROME


IMAGe syndrome is characterized by the association of Intrauterine growth retardation, Metaphyseal dysplasia (and short limbs), Adrenal hypoplasia congenita, and Genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait.

IMAGE SYNDROME Is also known as intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome|image syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about IMAGE SYNDROME

Top 5 symptoms//phenotypes associated to Muscular hypotonia and Hypospadias

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hypertelorism Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Muscular hypotonia and Hypospadias. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Seizures Micropenis Macrocephaly Microcephaly Cryptorchidism Hypoplasia of the corpus callosum Sensorineural hearing impairment Hearing impairment Feeding difficulties Visual impairment Strabismus Cleft palate Retrognathia Absent speech Motor delay Abnormal facial shape

Rare Symptoms - Less than 30% cases


Hypermetropia Clinodactyly Tented upper lip vermilion Open mouth Nystagmus Growth delay Delayed speech and language development Ophthalmoplegia Abnormal cardiac septum morphology Short stature Scoliosis Downslanted palpebral fissures Ventriculomegaly Hydronephrosis Intrauterine growth retardation Everted lower lip vermilion Behavioral abnormality Thick vermilion border Ptosis Prominent forehead Spasticity Ambiguous genitalia Finger clinodactyly Feeding difficulties in infancy Small hand Delayed skeletal maturation Flexion contracture Frontal bossing Patent ductus arteriosus Delayed ability to walk Primary adrenal insufficiency Metaphyseal dysplasia Long eyelashes Adrenal insufficiency Sandal gap Plagiocephaly High anterior hairline Polydactyly Short attention span Tented philtrum Ataxia Bilateral cryptorchidism Intellectual disability, severe Postaxial polydactyly Retinopathy Inguinal hernia Micromelia Short foot Epileptic encephalopathy Narrow mouth Abnormality of the skeletal system Long philtrum Encephalopathy Posteriorly rotated ears Upslanted palpebral fissure Hyperactivity Metaphyseal cupping High forehead Tapered finger Pes planus Deeply set eye Microtia Long face Downturned corners of mouth Dandy-Walker malformation Adrenal hypoplasia Retinal dystrophy Sloping forehead Postaxial hand polydactyly Dilation of lateral ventricles Cerebellar vermis hypoplasia Nephrocalcinosis Hypocalcemia Abnormality of the genital system Bilateral sensorineural hearing impairment Stereotypy Long palpebral fissure Low hanging columella Enlarged cisterna magna Dilated fourth ventricle Eczema Cerebellar dysplasia Dysgenesis of the cerebellar vermis Depressed nasal bridge Short nose Hypogonadism Postnatal growth retardation Respiratory tract infection Craniosynostosis Muscular dystrophy Short long bone Highly arched eyebrow Growth hormone deficiency Prominent occiput Congenital diaphragmatic hernia Apraxia Tall stature Wide anterior fontanel Epiphyseal dysplasia Oculomotor apraxia Aplasia/Hypoplasia of the corpus callosum Triphalangeal thumb Aplasia/Hypoplasia of the cerebellum Molar tooth sign on MRI Hypercalciuria Nephronophthisis Abnormality of the clavicle Hypercalcemia Anteverted nares Recurrent infections Cerebellar hypoplasia Abnormality of the pinna Prominent nasal bridge Polymicrogyria Nevus flammeus Prominent nose Sparse eyebrow Ventricular septal defect Spastic tetraparesis Leukoencephalopathy Ragged-red muscle fibers Macrovesicular hepatic steatosis Decreased activity of mitochondrial complex I Dysplastic corpus callosum Decreased activity of mitochondrial complex III Decreased activity of mitochondrial complex IV Clinodactyly of the 5th finger Cholestasis Thin upper lip vermilion Astigmatism Wide nose Decreased testicular size Narrow forehead Amblyopia Bicuspid aortic valve Drooling Spastic diplegia Muscle stiffness Tetraparesis High hypermetropia Hepatomegaly Triangular face Decreased body weight Relative macrocephaly Pterygium Melanocytic nevus Unilateral cryptorchidism Penoscrotal hypospadias Failure to thrive Dystonia Bradykinesia Acidosis Neonatal hypotonia Elevated hepatic transaminase Developmental regression Irritability Abnormality of the cerebral white matter Lactic acidosis Hepatic steatosis Increased serum lactate Supernumerary nipple Slender finger Nevus Shawl scrotum Micrognathia Autism Abnormality of the kidney Facial asymmetry Short thumb Cerebral visual impairment Horizontal nystagmus Absent thumb Truncus arteriosus Abnormality of the diaphragm Pineal cyst Cataract Epicanthus Kyphosis Dilatation Sparse hair Short philtrum Congenital cataract Microcornea Edema of the dorsum of hands Multiple prenatal fractures Periventricular leukomalacia Large fontanelles Skeletal muscle atrophy Dysphagia Respiratory failure Polyhydramnios Facial palsy Arthrogryposis multiplex congenita Pulmonary hypoplasia Premature birth Decreased fetal movement Severe muscular hypotonia Axial muscle weakness Adducted thumb Abnormality of the thorax Hypokinesia Thin ribs Facial diplegia Nemaline bodies Breech presentation Type 1 muscle fiber predominance Increased connective tissue Congenital adrenal hypoplasia



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