Cryptorchidism, and Spinal muscular atrophy

Diseases related with Cryptorchidism and Spinal muscular atrophy

In the following list you will find some of the most common rare diseases related to Cryptorchidism and Spinal muscular atrophy that can help you solving undiagnosed cases.

Top matches:

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

Steinert disease, also known as myotonic dystrophy type 1, is a muscle disease characterized by myotonia and by multiorgan damage that combines various degrees of muscle weakness, arrhythmia and/or cardiac conduction disorders, cataract, endocrine damage, sleep disorders and baldness.

STEINERT MYOTONIC DYSTROPHY Is also known as dm1|md1|myotonic dystrophy type 1|steinert disease

Related symptoms:

  • Strabismus
  • Muscular hypotonia
  • Cataract
  • Cryptorchidism
  • Skeletal muscle atrophy


SOURCES: ORPHANET MENDELIAN

More info about STEINERT MYOTONIC DYSTROPHY

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

Other less relevant matches:

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

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

Autosomal dominant centronuclear myopathy (AD-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

AUTOSOMAL DOMINANT CENTRONUCLEAR MYOPATHY Is also known as myotubular myopathy, autosomal dominant|ad-cnm|myopathy, centronuclear, autosomal dominant

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT CENTRONUCLEAR MYOPATHY

Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.

NATIVE AMERICAN MYOPATHY Is also known as nam|myopathy, congenital, with myopathic facies, scoliosis, and malignant hyperthermia|native american myopathy|congenital myopathy-cleft palate-malignant hyperthermia syndrome

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NATIVE AMERICAN MYOPATHY

Infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) is a severe autosomal recessive neurologic disorder with onset at birth or in early infancy. Affected individuals show very poor, if any, normal cognitive development. Some patients are never learn to sit or walk independently (summary by Al-Sayed et al., 2013). Genetic Heterogeneity of Infantile Hypotonia with Psychomotor Retardation and Characteristic FaciesSee also IHPRF2 (OMIM ), caused by mutation in the UNC80 gene (OMIM ) on chromosome 2q34; and IHPRF3 (OMIM ), caused by mutation in the TBCK gene (OMIM ) on chromosome 4q24.

HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1; IHPRF1 Is also known as ihprf

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1; IHPRF1

Congenital fiber-type disproportion (CFTD) myopathy is a genetically heterogeneous disorder in which there is relative hypotrophy of type 1 muscle fibers compared to type 2 fibers on skeletal muscle biopsy. However, these findings are not specific and can be found in many different myopathic and neuropathic conditions. Clarke and North (2003) stated that the diagnosis of 'congenital fiber-type disproportion' as a disease entity is one of exclusion. They also suggested that the nonspecific histologic findings should be termed 'fiber size disproportion,' thus reserving the term CFTD for those cases in which no secondary cause can be found.

MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD Is also known as cftdm|fiber-type disproportion myopathy, congenital

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD

Low match LEPRECHAUNISM

Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation.

LEPRECHAUNISM Is also known as donohue syndrome|leprechaunism

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LEPRECHAUNISM

Top 5 symptoms//phenotypes associated to Cryptorchidism and Spinal muscular atrophy

Symptoms // Phenotype % cases
Skeletal muscle atrophy Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Flexion contracture Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Cryptorchidism and Spinal muscular atrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Muscle weakness Facial palsy Myopathy Areflexia Cognitive impairment Low-set ears Failure to thrive Ptosis Short stature Growth delay Decreased fetal movement Feeding difficulties Open mouth Nystagmus Respiratory insufficiency due to muscle weakness Generalized muscle weakness Hypogonadism Proximal muscle weakness Dysphagia Hearing impairment Microcephaly Global developmental delay Hypoplasia of penis Respiratory insufficiency Micrognathia Strabismus Macrotia Micropenis Inguinal hernia High palate Hernia

Rare Symptoms - Less than 30% cases

Generalized hirsutism Hepatic fibrosis Pigmentary retinopathy Midface retrusion Low-set, posteriorly rotated ears Abnormal facial shape Obesity Edema Downslanted palpebral fissures Neonatal hypotonia Cleft palate Postprandial hyperglycemia Hirsutism Hypogonadotrophic hypogonadism Glucose intolerance Peripheral axonal neuropathy Delayed puberty Hyperinsulinemia Clumsiness Small for gestational age Hyperglycemia Muscular dystrophy Gynecomastia Hypoglycemia Restrictive deficit on pulmonary function testing Wide mouth Severe short stature Postnatal growth retardation Cerebellar atrophy Insulin resistance Muscular hypotonia of the trunk Seizures Infantile muscular hypotonia Cataract Muscular hypotonia Short neck Kyphosis Short nose Malignant hyperthermia Hypospadias Centrally nucleated skeletal muscle fibers Arthrogryposis multiplex congenita Brachycephaly Myopathic facies Multiple joint contractures Thickened nuchal skin fold Progressive muscle weakness Congenital contracture Hypertelorism Ophthalmoplegia Long face Motor delay Absent speech Abnormality of the foot musculature Severe global developmental delay Macrocephaly at birth Abnormality of the cerebral white matter Poor speech Smooth philtrum Downturned corners of mouth Narrow forehead Neonatal asphyxia Neurodegeneration Short palpebral fissure Triangular face Spastic tetraplegia Tetraparesis Multiple skeletal anomalies Spastic tetraparesis Proximal muscle weakness in upper limbs Cavernous hemangioma Ankle contracture Broad forehead Sleepy facial expression Constipation Hyperreflexia Prominent forehead Blepharophimosis Telecanthus Hyperactivity Gastroesophageal reflux Optic atrophy Thin upper lip vermilion Conductive hearing impairment Kyphoscoliosis Abnormality of the foot Epicanthus Developmental regression Talipes Hyporeflexia Gowers sign Abnormal pyramidal sign Pectus excavatum Ventriculomegaly Pectus carinatum Abnormality of the skeletal system Fever Tented upper lip vermilion Glycosuria Decreased motor nerve conduction velocity Cachexia Reduced subcutaneous adipose tissue Hypermelanotic macule Decreased muscle mass Large hands Clitoral hypertrophy Precocious puberty Cutis laxa Severe intrauterine growth retardation Acanthosis nigricans Gingival overgrowth Cholestasis Hypertrichosis Thick lower lip vermilion Epidermal acanthosis Lipoatrophy Hearing abnormality Nail dysplasia Abnormality of the abdominal wall Prominent nipples Adipose tissue loss Elfin facies Female pseudohermaphroditism Absence of subcutaneous fat Pancreatic islet-cell hyperplasia Thick nasal alae Severe failure to thrive Long penis Fasting hypoglycemia Ovarian cyst Small face Concave nasal ridge Long foot Type II diabetes mellitus Abdominal distention Poor eye contact Limb muscle weakness Congenital hip dislocation Narrow face Atrial fibrillation Lumbar hyperlordosis Waddling gait Lower limb muscle weakness Dilated cardiomyopathy Weak cry Joint laxity Osteopenia Respiratory failure Diabetes mellitus Cardiomyopathy Slender nose Bulbar palsy Difficulty running High, narrow palate Delayed skeletal maturation Thick vermilion border Feeding difficulties in infancy Umbilical hernia Proptosis Hyperkeratosis Recurrent respiratory infections Recurrent infections Insulin-resistant diabetes mellitus Intrauterine growth retardation Depressed nasal bridge Type 1 fibers relatively smaller than type 2 fibers Spinal deformities Abnormal glucose tolerance Limb joint contracture Nemaline bodies Proximal muscle weakness in lower limbs Absent paranasal sinuses Exercise-induced myalgia Medial flaring of the eyebrow Testicular atrophy Abnormality of the upper urinary tract Abnormal hair quantity First degree atrioventricular block Hernia of the abdominal wall Hypertension Prominent nasal bridge Neurological speech impairment Finger syndactyly Postaxial hand polydactyly Nephrotic syndrome Multicystic kidney dysplasia Abnormal electroretinogram Hypoplasia of the ovary Ataxia Non-midline cleft lip Peripheral neuropathy Frontal bossing Alopecia Rod-cone dystrophy Gait ataxia Hypothyroidism Pallor Sparse hair Distal muscle weakness Spastic paraplegia Paraplegia Retinal degeneration Distal amyotrophy Thick eyebrow Abnormality of the endocrine system Mask-like facies Growth hormone deficiency Failure to thrive in infancy Wide nasal bridge Gait disturbance Long philtrum Abnormality of metabolism/homeostasis Joint stiffness Camptodactyly of finger Dolichocephaly Narrow chest Wide intermamillary distance Interphalangeal joint contracture of finger Bilateral single transverse palmar creases Abnormality of the fingernails Severe muscular hypotonia Adducted thumb Myotonia Proximal placement of thumb Tongue fasciculations Degeneration of anterior horn cells Microphallus Skin dimples Proximal spinal muscular atrophy Respiratory distress Hydrocephalus Intellectual disability, severe Hypertonia Abnormality of cardiovascular system morphology Hip dislocation EMG abnormality Intellectual disability, progressive Progressive cerebellar ataxia Sparse scalp hair Areflexia of lower limbs Spontaneous abortion Diastema Lacrimal duct stenosis Abnormality of the sense of smell Aplasia/Hypoplasia involving the nose Frontal encephalocele Aplasia of the nose Pain Pes cavus Polyhydramnios Difficulty walking Myalgia Falls Urinary incontinence Frequent falls External ophthalmoplegia Lacrimation abnormality Delayed gross motor development EMG: myopathic abnormalities Easy fatigability Pyloric stenosis Ophthalmoparesis Skeletal muscle hypertrophy Calf muscle hypertrophy Large for gestational age Mildly elevated creatine phosphokinase Generalized amyotrophy Muscle fibrillation Thin ribs Drowsiness Type 1 muscle fiber predominance Hypoplasia of teeth Hyposmia Long eyelashes Coloboma Horizontal nystagmus Sensory axonal neuropathy Chorioretinal atrophy Retinal atrophy Progressive gait ataxia Recurrent hypoglycemia Titubation Alopecia areata Choroideremia Long eyebrows Central heterochromia Visual impairment Microphthalmia Cleft lip Corneal opacity Hypoplastic labia majora Scrotal hypoplasia Agenesis of permanent teeth Preauricular pit Anophthalmia Limb-girdle muscular dystrophy Reduced number of teeth Anosmia Encephalocele Synophrys Choanal atresia Primary amenorrhea Dental malocclusion Broad nasal tip Hypoplasia of the maxilla Iris coloboma Asymmetry of the breasts


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