Cryptorchidism, and Spastic paraplegia

Diseases related with Cryptorchidism and Spastic paraplegia

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


Top matches:

High match HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS


HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS Is also known as aqueductal stenosis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS

High 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

High match PONTOCEREBELLAR HYPOPLASIA TYPE 7


Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia (see this term) with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development (see this term) in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype.

PONTOCEREBELLAR HYPOPLASIA TYPE 7 Is also known as pontocerebellar hypoplasia-46,xy disorder of sex development syndrome|pch7

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 7

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Other less relevant matches:

High 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

High match ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME


X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal.

ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME Is also known as atr-x syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME

High match MILLER-DIEKER SYNDROME


Miller-Dieker Syndrome (MDS) is a contiguous gene deletion syndrome of chromosome 17p13.3, characterised by classical lissencephaly (lissencephaly type 1) and distinct facial features. Additional congenital malformations can be part of the condition.

MILLER-DIEKER SYNDROME Is also known as monosomy 17p13.3|lissencephaly due to 17p13.3 deletion|mds|telomeric deletion 17p

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about MILLER-DIEKER SYNDROME

High match MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1


The term 'X-linked mental retardation-hypotonic facies syndrome' comprises several syndromes previously reported separately. These include Juberg-Marsidi, Carpenter-Waziri, Holmes-Gang, and Smith-Fineman-Myers syndromes as well as 1 family with X-linked mental retardation with spastic paraplegia. All these syndromes were found to be caused by mutation in the XH2 gene and are characterized primarily by severe mental retardation, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women (Abidi et al., 2005). Other more variable features include hypogonadism, deafness, renal anomalies, and mild skeletal defects.X-linked alpha-thalassemia/mental retardation syndrome (ATR-X; {301040}) is an allelic disorder with a similar phenotype with the addition of alpha-thalassemia and Hb H inclusion bodies in erythrocytes.

MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1 Is also known as smith-fineman-myers syndrome 1|chudley-lowry syndrome|holmes-gang syndrome|mental retardation, x-linked, with growth retardation, deafness, and microgenitalism|xlmr-hypotonic facies syndrome|carpenter-waziri syndrome|sfms|sfm1|jms|juberg-marsidi syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1

High match SMITH-MAGENIS SYNDROME; SMS


SMITH-MAGENIS SYNDROME; SMS Is also known as chromosome 17p11.2 deletion syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SMITH-MAGENIS SYNDROME; SMS

High match KALLMANN SYNDROME


Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs).

KALLMANN SYNDROME Is also known as congenital hypogonadotropic hypogonadism with anosmia|olfacto-genital pathological sequence

Related symptoms:

  • Seizures
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about KALLMANN SYNDROME

High match MIRAGE SYNDROME


MIRAGE syndrome is a form of syndromic adrenal hypoplasia, characterized by myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy. The condition is often fatal within the first decade of life, usually as a result of invasive infection (Narumi et al., 2016).

MIRAGE SYNDROME Is also known as myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome|myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome|myelodysplasia, infection, restriction of gr

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Cryptorchidism


SOURCES: OMIM ORPHANET MENDELIAN

More info about MIRAGE SYNDROME

Top 5 symptoms//phenotypes associated to Cryptorchidism and Spastic paraplegia

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Micropenis Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cryptorchidism and Spastic paraplegia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Paraplegia

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia Epicanthus Upslanted palpebral fissure Hypertelorism Global developmental delay Cerebral cortical atrophy Growth delay Ataxia Generalized hypotonia Nystagmus Brachydactyly Spasticity Wide nasal bridge Hyperreflexia Gastroesophageal reflux Obesity Talipes equinovarus Cleft palate Anteverted nares Clinodactyly Sensorineural hearing impairment Decreased testicular size Abnormality of cardiovascular system morphology Motor delay Low-set ears Intrauterine growth retardation Ptosis Short nose Hypoplasia of penis Hypoplasia of the corpus callosum Macroglossia High palate Abnormality of the kidney Optic atrophy Constipation Clinodactyly of the 5th finger Midface retrusion Progressive spastic paraplegia Thin upper lip vermilion Thick upper lip vermilion Myopia Posteriorly rotated ears Abnormal facial shape Frontal bossing Hypogonadism Strabismus Agenesis of corpus callosum Intellectual disability, severe Pes planus Hypertonia Muscle weakness Failure to thrive

Rare Symptoms - Less than 30% cases


Muscular hypotonia Anemia Increased body weight Behavioral abnormality Abnormality of the dentition Facial hypotonia Microtia Hyperactivity Delayed skeletal maturation Hypospadias Lower limb hypertonia Single transverse palmar crease Drooling Intellectual disability, progressive Hearing impairment Decreased body weight Protruding tongue Tapered finger Short palm Falls Intellectual disability, moderate Aggressive behavior Deeply set eye Mandibular prognathia Autism Scoliosis Pes cavus Malar flattening Abnormality of upper lip Telecanthus Lissencephaly EEG abnormality High forehead Delayed eruption of teeth Polyhydramnios Brachycephaly Prominent forehead Abnormality of the cardiovascular system Inguinal hernia Narrow forehead Abnormality of metabolism/homeostasis Decreased fetal movement Omphalocele Pachygyria Heterotopia Sacral dimple Midline brain calcifications Infantile muscular hypotonia U-Shaped upper lip vermilion Self-injurious behavior Encephalitis Tented upper lip vermilion Recurrent urinary tract infections Thick lower lip vermilion Flat face Duodenal atresia Deep palmar crease Cavum septum pellucidum Recurrent aspiration pneumonia Pelvic kidney Nephropathy Abnormal heart morphology Cataract Delayed speech and language development Hypoglycemia Macrotia Absent speech Ventriculomegaly Depressed nasal bridge Alopecia areata Hypogonadotrophic hypogonadism Gynecomastia Thick eyebrow Delayed puberty Hypothyroidism Ambiguous genitalia Peripheral neuropathy Cognitive impairment Bilateral cryptorchidism Joint stiffness Coarse facial features Babinski sign Hyporeflexia Hydrocephalus Short neck Esotropia Small hand Microphallus Hypergonadotropic hypogonadism Hypoplasia of the maxilla Synophrys Dry skin Paresthesia Oral cleft Retinal detachment Sleep disturbance Microcornea Full cheeks Otitis media Hypertriglyceridemia Broad-based gait Hypoplasia of dental enamel Stereotypy Abnormal vertebral morphology Sinusitis Hoarse voice Hypercholesterolemia Abnormality of the outer ear Abnormality of the urinary system Poor suck Impulsivity Open bite Abnormality of the thyroid gland Abnormality of the immune system Broad palm Impaired pain sensation Drowsiness Overweight Self-mutilation Lethargy Paralysis Short attention span Talipes calcaneovalgus Retrognathia Widely spaced teeth Sex reversal Scrotal hypoplasia Radial deviation of finger Mild short stature External genital hypoplasia Slender finger Abnormality of blood and blood-forming tissues Pectus excavatum Asplenia Short upper lip Bilateral renal hypoplasia Widely-spaced maxillary central incisors Hyperlordosis Equinovarus deformity Hypoplastic philtrum Alternating exotropia Paroxysmal bursts of laughter Overjet Triangular nasal tip Pain Feeding difficulties Edema Areflexia Macrocephaly Conductive hearing impairment Anxiety Cleft lip Chronic constipation Broad face Bruxism Leukopenia Bimanual synkinesia Dyspareunia Erectile abnormalities Hypothalamic gonadotropin-releasing hormone deficiency Diarrhea Thrombocytopenia Patent ductus arteriosus Sepsis Chronic diarrhea Hyperpigmentation of the skin Lymphopenia Meningitis Recurrent bacterial infections Abnormal intestine morphology Abnormality of female internal genitalia Intracranial hemorrhage Myelodysplasia Hyponatremia Rocker bottom foot Adrenal insufficiency Hyperkalemia Petechiae Shawl scrotum Adrenal hypoplasia Aspiration pneumonia Overlapping fingers Achalasia Esophageal stricture Radial club hand Breast hypoplasia Anterior hypopituitarism Exotropia Sleep-wake inversion Abnormality of the larynx Abnormal renal morphology Recurrent ear infections Everted upper lip vermilion Velopharyngeal insufficiency Excessive daytime sleepiness Mood changes Hyperacusis Premature atrial contractions Morphological abnormality of the middle ear Abnormal tracheobronchial morphology Abnormality of the forearm Head-banging Frequent temper tantrums Visual impairment Hyposmia Dysarthria Tremor Gait disturbance Skeletal dysplasia Ichthyosis Recurrent fractures Renal agenesis Primary amenorrhea Reduced bone mineral density Anosmia Reduced number of teeth Abnormality of the voice Abnormality of color vision Decreased fertility Narrow face Open mouth Abnormality of the genital system Dysphasia Nausea and vomiting Abnormality of movement Central heterochromia Everted lower lip vermilion Long eyebrows Choroideremia Depressed nasal ridge Aganglionic megacolon Smooth philtrum Abnormality of the face Titubation Recurrent hypoglycemia Progressive gait ataxia Male pseudohermaphroditism Oculomotor apraxia Volvulus Profound global developmental delay Abnormal hemoglobin Retinal atrophy Abnormality of fontanelles Abnormality of the male genitalia Neoplasm Chorioretinal atrophy Sensory axonal neuropathy Poor speech Horizontal nystagmus Hypermetropia Long eyelashes Downslanted palpebral fissures Feeding difficulties in infancy Hydronephrosis Atrial septal defect Low frustration tolerance Interphalangeal joint contracture of finger Fasciculations Short foot Large hands Lower limb hyperreflexia Delayed myelination Multiple cafe-au-lait spots Restlessness Nevus Distal lower limb amyotrophy Shuffling gait Furrowed tongue Diastema Chorea Small forehead Dystonia Talipes calcaneovarus Gliosis Abnormality of the cerebral white matter Irritability Flexion contracture Apnea Blindness Muscular hypotonia of the trunk High, narrow palate Myoclonus Depressivity Cerebellar hypoplasia Short distal phalanx of finger Cerebral atrophy Dysphagia Clumsiness Progressive microcephaly Adducted thumb Flexion contracture of thumb Esodeviation Oxycephaly Visceromegaly Agyria Decerebrate rigidity Aqueductal stenosis Absent septum pellucidum Type I lissencephaly Hemiplegia/hemiparesis Bitemporal hollowing Flat occiput Vomiting Increased intracranial pressure Infantile spasms Holoprosencephaly Pneumonia Olivopontocerebellar hypoplasia Kyphoscoliosis Nevus flammeus Wide mouth Hypoplasia of the pons Dolichocephaly Nail dystrophy Abnormality of the foot Genu valgum Thick vermilion border Vesicoureteral reflux Renal hypoplasia Premature skin wrinkling Prominent occiput Sparse scalp hair Distal muscle weakness Pigmentary retinopathy Growth hormone deficiency Progressive cerebellar ataxia Prominent nasal bridge Distal amyotrophy Retinal degeneration Polydactyly Peripheral axonal neuropathy Camptodactyly of finger Small for gestational age Camptodactyly Postnatal growth retardation Thin vermilion border Wide nose Sparse hair Spastic diplegia Pallor Protruding ear Prominent supraorbital ridges Gait ataxia Rod-cone dystrophy Severe short stature Alopecia Spastic gait Joint contracture of the hand Cerebellar atrophy Clitoral hypertrophy Hypoplasia of the brainstem Deep philtrum Abnormality of neuronal migration Hypoplastic spleen



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