Skeletal muscle atrophy, and Hypoplasia of penis

Diseases related with Skeletal muscle atrophy and Hypoplasia of penis

In the following list you will find some of the most common rare diseases related to Skeletal muscle atrophy and Hypoplasia of penis that can help you solving undiagnosed cases.


Top 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 BARDET-BIEDL SYNDROME


Bardet-Biedl syndrome (BBS) is a ciliopathy with multisystem involvement.

BARDET-BIEDL SYNDROME Is also known as bbs

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Nystagmus
  • Cryptorchidism


SOURCES: ORPHANET MENDELIAN

More info about BARDET-BIEDL SYNDROME

Low match OLIVER-MCFARLANE SYNDROME; OMCS


Oliver-McFarlane syndrome is a rare congenital disorder characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies, including growth hormone (GH ), gonadotropins (see {118860}), and thyroid-stimulating hormone (TSH; see {118850}). Thyroid and GH abnormalities may be present at birth and, if untreated, result in intellectual impairment and profound short stature. Congenital hypogonadism occurs in half of patients, and nearly all have documented hypogonadotropic hypogonadism during puberty, with subsequent reproductive dysfunction. Chorioretinal atrophy is typically noted in the first 5 years of life. Half of reported cases have spinocerebellar involvement, including ataxia, spastic paraplegia, and peripheral neuropathy (summary by Hufnagel et al., 2015).Laurence-Moon syndrome (OMIM ) is an allelic disorder with overlapping features.

OLIVER-MCFARLANE SYNDROME; OMCS Is also known as eyelashes, long, with mental retardation|trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of retina

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Growth delay
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about OLIVER-MCFARLANE SYNDROME; OMCS

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Other less relevant matches:

Low match ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME


Arhinia-choanal atresia-microphthalmia is a malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.

ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME Is also known as arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Cleft palate
  • Cataract
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME

Low match INFANTILE-ONSET X-LINKED SPINAL MUSCULAR ATROPHY


X-linked distal arthrogryposis multiplex congenital (SMAX2) is a rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. SMAX2 patients often have a limited life span, often succumbing to the disease within 2 years, as muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure.

INFANTILE-ONSET X-LINKED SPINAL MUSCULAR ATROPHY Is also known as smax2|amc, distal, x-linked|arthrogryposis, x-linked, type i|spinal muscular atrophy, infantile x-linked|x-linked spinal muscular atrophy type 2|spinal muscular atrophy, x-linked lethal infantile|spinal muscular atrophy with arthrogryposis|x-linked distal

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Micrognathia
  • Strabismus


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INFANTILE-ONSET X-LINKED SPINAL MUSCULAR ATROPHY

Low match SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION


Syndromic X-linked intellectual disability due to JARID1C mutation is characterised by mild to severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioural problems. To date, it has been described in less than 15 families. Transmission is X-linked recessive and the syndrome is caused by mutations in the JARID1C (SMCX) gene encoding a JmjC-domain protein with histone demethylase activity.

SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION Is also known as mental retardation, x-linked, syndromic, jarid1c-related|mrxsj

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION

Low match WALKER-WARBURG SYNDROME


Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities.

WALKER-WARBURG SYNDROME Is also known as hard syndrome|cerebroocular dysplasia-muscular dystrophy syndrome|hydrocephalus, agyria, and retinal dysplasia|walker-warburg syndrome or muscle-eye-brain disease, pomt1-related|wws|hydrocephalus-agyria-retinal dysplasia syndrome|cod-md syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about WALKER-WARBURG SYNDROME

Low match MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1


Mosaic variegated aneuploidy is an autosomal recessive disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. The proportion of aneuploid cells varies but is usually more than 25% and is substantially greater than in normal individuals. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor, and leukemia reported in several cases (summary by Hanks et al., 2004). Genetic Heterogeneity of Mosaic Variegated Aneuploidy SyndromeSee also MVA2 (OMIM ), caused by mutation in the CEP57 gene (OMIM ) on chromosome 11q21, and MVA3 (OMIM ), caused by mutation in the TRIP13 gene (OMIM ) on chromosome 5p15.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1 Is also known as mva syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1

Low match CONGENITAL MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA


Multiminicore disease (MMD) is an inherited neuromuscular disorder defined pathologically by the presence of multiple areas of reduced mitochondrial oxidative activity running along a limited extent of the longitudinal axis of the muscle fiber, so-called 'minicores.' These regions show sarcomere disorganization and mitochondria depletion. Typically, no dystrophic signs, such as muscle fiber necrosis or regeneration or significant endomysial fibrosis, are present. MMD is a pathologic diagnosis and shows clinical and genetic heterogeneity. Affected individuals have clinical features of a congenital myopathy, including neonatal hypotonia, delayed motor development, and generalized muscle weakness and amyotrophy, which may progress slowly or remain stable (Ferreiro and Fardeau, 2002).Patients with recessive mutations in the RYR1 gene typically show severe congenital muscular dystrophy with ophthalmoplegia, although there is phenotypic variability. Some patients may present in utero with fetal akinesia, arthrogryposis, and lung hypoplasia resulting in fetal or perinatal death (McKie et al., 2014). Skeletal muscle biopsy of patients with recessive RYR1 mutations show variable features, including central cores (Jungbluth et al., 2007), congenital fiber-type disproportion (CFTD) (Monnier et al., 2009), and centronuclear myopathy (Wilmshurst et al., 2010).

CONGENITAL MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA Is also known as minicore myopathy|multicore myopathy|multiminicore disease with external ophthalmoplegia|multiminicore myopathy multicore myopathy with external ophthalmoplegia

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA

Low match AUTOSOMAL RECESSIVE MULTIPLE PTERYGIUM SYNDROME


AUTOSOMAL RECESSIVE MULTIPLE PTERYGIUM SYNDROME Is also known as autosomal recessive non-lethal multiple pterygium syndrome|escobar variant multiple pterygium syndrome|evmps|escobar syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE MULTIPLE PTERYGIUM SYNDROME

Top 5 symptoms//phenotypes associated to Skeletal muscle atrophy and Hypoplasia of penis

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

Patients with Skeletal muscle atrophy and Hypoplasia of penis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Short stature Hypertelorism Cleft palate Growth delay Microcephaly Short neck Hypogonadism Micrognathia Flexion contracture Seizures Hypospadias Muscle weakness Muscular dystrophy High palate Arthrogryposis multiplex congenita Cognitive impairment Scrotal hypoplasia Cataract Scoliosis Inguinal hernia Strabismus Muscular hypotonia Ptosis Intrauterine growth retardation Downslanted palpebral fissures Prominent nasal bridge Nystagmus Clinodactyly Abnormal facial shape Facial palsy Pulmonary hypoplasia Decreased fetal movement Hearing impairment Dolichocephaly Camptodactyly of finger Severe muscular hypotonia Areflexia Long philtrum Myopathy

Rare Symptoms - Less than 30% cases


Midface retrusion Wide nasal bridge Corneal opacity Coloboma Cleft lip Macrocephaly Hernia Edema Microphthalmia Iris coloboma Myopia Respiratory insufficiency Congenital contracture Myopathic facies Gait disturbance Alopecia areata Feeding difficulties in infancy Hypoplasia of the maxilla Macrotia Protruding ear Retinal atrophy Short nose Pectus excavatum Upslanted palpebral fissure Webbed neck Diastema Congenital muscular dystrophy Pterygium Primary amenorrhea Interphalangeal joint contracture of finger Anophthalmia Intellectual disability, severe Kyphosis Limb-girdle muscular dystrophy Talipes equinovarus Encephalocele Epicanthus Hypogonadotrophic hypogonadism Hydrocephalus Frontal bossing Cerebellar hypoplasia Axial muscle weakness Increased connective tissue Type 1 muscle fiber predominance Dandy-Walker malformation Nemaline bodies Posteriorly rotated ears Facial diplegia Ventriculomegaly Failure to thrive Small for gestational age Spastic paraplegia Delayed puberty Paraplegia Intellectual disability, profound Global developmental delay Finger syndactyly Motor delay Respiratory failure Polyhydramnios Pigmentary retinopathy Ophthalmoplegia Oral cleft Adducted thumb Obesity Agenesis of corpus callosum Abnormality of the optic nerve Abnormal cortical gyration Buphthalmos Retinal dysplasia Aqueductal stenosis Peters anomaly Bilateral cleft lip Thick cerebral cortex Megalocornea Myelodysplasia Sarcoma Submucous cleft hard palate Nephroblastoma Occipital encephalocele Absent septum pellucidum Congenital glaucoma Bifid scrotum Combined immunodeficiency Acute lymphoblastic leukemia Severe intrauterine growth retardation Abnormality of neuronal migration Muscle fiber splitting Amenorrhea Hyperpigmentation of the skin Immunodeficiency High forehead Metatarsus valgus Severe hydrocephalus Macrogyria Brachycephaly Abnormal lactate dehydrogenase activity Chorioretinal dysplasia Abnormal levels of creatine kinase in blood Malar flattening Anteverted nares Hypoplastic male external genitalia Aplasia/Hypoplasia involving the skeletal musculature Depressed nasal bridge Neoplasm Acute leukemia Abnormality of the cerebellar vermis Hypoglycosylation of alpha-dystroglycan Cerebellar dysplasia Renal cyst Ambiguous genitalia Oligohydramnios Type II lissencephaly Cerebellar cyst Abnormal aldolase level Generalized myoclonic seizures Agyria Excessive daytime sleepiness Meningoencephalocele Wide nose Generalized tonic-clonic seizures Severe global developmental delay Leukemia Postnatal growth retardation Remnants of the hyaloid vascular system Posterior fossa cyst Multiple renal cysts Hydrops fetalis Mild microcephaly Umbilical hernia Nevus Long face Abnormality of movement Facial asymmetry Abnormality of the foot Telecanthus Conductive hearing impairment Abnormality of cardiovascular system morphology Low posterior hairline Type 1 and type 2 muscle fiber minicore regions Abnormal muscle morphology Sternocleidomastoid amyotrophy Frog-leg posture Tibialis atrophy Rectus femoris muscle atrophy Muscle fiber hypertrophy Internally nucleated skeletal muscle fibers Limitation of joint mobility Pointed chin Minicore myopathy Rib fusion Morphological abnormality of the gastrointestinal tract Abnormality of skeletal morphology Axillary pterygium Antecubital pterygium Popliteal pterygium Multiple pterygia Abnormality of the tongue Abnormal aortic valve morphology Aplasia/Hypoplasia of the abdominal wall musculature Spina bifida occulta Symphalangism affecting the phalanges of the hand Abnormal eyelid morphology Hearing abnormality Aplasia/Hypoplasia of the skin Abnormality of the sternum Vertebral segmentation defect Neonatal respiratory distress Aortic aneurysm Type 1 muscle fiber atrophy Functional respiratory abnormality Short sternum Recurrent respiratory infections Generalized muscle weakness Single transverse palmar crease Respiratory tract infection Joint laxity Proximal muscle weakness Neonatal hypotonia Kyphoscoliosis Pneumonia Cyanosis Respiratory distress Feeding difficulties Hypodysplasia of the corpus callosum Embryonal rhabdomyosarcoma Premature chromatid separation Cerebral hypoplasia Triangular mouth Rhabdomyosarcoma Aciduria Bradycardia Generalized limb muscle atrophy Distal arthrogryposis Muscle fiber necrosis Increased nuchal translucency 3-Methylglutaconic aciduria Exercise-induced myalgia Shoulder girdle muscle weakness Fetal akinesia sequence Bell-shaped thorax Severe postnatal growth retardation Difficulty running Narrow face Centrally nucleated skeletal muscle fibers Cystic hygroma Increased variability in muscle fiber diameter Bilateral cryptorchidism Mask-like facies Akinesia Tented upper lip vermilion External ophthalmoplegia Hypoplasia of the brainstem Decreased testicular size Atresia of the external auditory canal Recurrent hypoglycemia Synophrys Visual impairment Central heterochromia Long eyebrows Choroideremia Titubation Progressive gait ataxia Dental malocclusion Chorioretinal atrophy Sensory axonal neuropathy Horizontal nystagmus Gynecomastia Long eyelashes Clumsiness Sparse scalp hair Broad nasal tip Choanal atresia Progressive cerebellar ataxia Abnormality of the sense of smell Joint stiffness Abnormality of metabolism/homeostasis Absent paranasal sinuses Aplasia of the nose Frontal encephalocele Aplasia/Hypoplasia involving the nose Lacrimal duct stenosis Anosmia Hypoplasia of teeth Lacrimation abnormality Hyposmia Hypoplastic labia majora Agenesis of permanent teeth Preauricular pit Reduced number of teeth Growth hormone deficiency Thick eyebrow Wide intermamillary distance Abnormality of the diaphragm Nephrotic syndrome Postaxial hand polydactyly Neurological speech impairment Low-set, posteriorly rotated ears Hypertension Edema of the dorsum of hands Multiple prenatal fractures Generalized hirsutism Breech presentation Thin ribs Hypokinesia Abnormality of the thorax Large fontanelles Premature birth Dysphagia Hepatic fibrosis Multicystic kidney dysplasia Distal amyotrophy Gait ataxia Retinal degeneration Peripheral axonal neuropathy Distal muscle weakness Sparse hair Pallor Hypoglycemia Hypothyroidism Rod-cone dystrophy Abnormal electroretinogram Severe short stature Alopecia Cerebellar atrophy Peripheral neuropathy Ataxia Medial flaring of the eyebrow Hypoplasia of the ovary Narrow chest Open mouth Optic nerve hypoplasia Talipes calcaneovarus Elevated serum creatine phosphokinase Hyporeflexia Dilatation Blindness Hypoplasia of the corpus callosum Optic atrophy Small forehead Proptosis Low frustration tolerance Lower limb hypertonia Furrowed tongue Shuffling gait Distal lower limb amyotrophy Facial hypotonia Restlessness Glaucoma Hydronephrosis Progressive spastic paraplegia Microcornea Lissencephaly Renal dysplasia Heterotopia Pachygyria Cerebellar vermis hypoplasia Specific learning disability Bifid uvula Retinal detachment Retinopathy Retinal dystrophy Polymicrogyria Cleft upper lip Anal atresia Congenital cataract Abnormality of the cerebral white matter Microtia Multiple cafe-au-lait spots Lower limb hyperreflexia Bilateral single transverse palmar creases Degeneration of anterior horn cells Hyperreflexia Delayed speech and language development Spasticity Proximal spinal muscular atrophy Skin dimples Microphallus Tongue fasciculations Absent speech Thickened nuchal skin fold Multiple joint contractures Proximal placement of thumb Spinal muscular atrophy Failure to thrive in infancy Respiratory insufficiency due to muscle weakness Abnormality of the fingernails Brachydactyly Babinski sign Large hands Falls Intellectual disability, progressive Decreased body weight Tapered finger Short foot High, narrow palate Short distal phalanx of finger Short palm Smooth philtrum Autism Poor speech Hypermetropia Intellectual disability, moderate Aggressive behavior Deeply set eye Thin upper lip vermilion Mandibular prognathia Absence of labia majora



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