Cryptorchidism, and Depressivity

Diseases related with Cryptorchidism and Depressivity

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

Top matches:

NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM Is also known as isolated congenital gonadotropin deficiency|normosmic idiopathic hypogonadotropic hypogonadism|gonadotropic deficiency|nihh

Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Cryptorchidism
  • Depressed nasal bridge
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM

KLEEFSTRA SYNDROME DUE TO 9Q34 MICRODELETION Is also known as kleefstra syndrome due to del(9)(q34)|9q subtelomeric deletion syndrome|kleefstra syndrome due to 9q subtelomeric deletion|kleefstra syndrome due to monosomy 9q34|9qstds

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET MENDELIAN

More info about KLEEFSTRA SYNDROME DUE TO 9Q34 MICRODELETION

Choroid plexus tumors are of neuroectodermal origin and range from benign choroid plexus papillomas (CPPs) to malignant choroid carcinomas (CPCs). These rare tumors generally occur in childhood, but have also been reported in adults. Patients typically present with signs and symptoms of increased intracranial pressure including headache, hydrocephalus, papilledema, nausea, vomiting, cranial nerve deficits, gait impairment, and seizures (summary by Safaee et al., 2013).

PAPILLOMA OF CHOROID PLEXUS; CPP Is also known as choroid plexus papilloma

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hypertelorism
  • Neoplasm
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about PAPILLOMA OF CHOROID PLEXUS; CPP

Other less relevant matches:

Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPONDYLO-OCULAR SYNDROME

Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.

ATELOSTEOGENESIS TYPE I Is also known as mecp2 duplication syndrome|aoi|giant cell chondrodysplasia|mental retardation, x-linked, with recurrent respiratory infections|spondylo-humero-femoral dysplasia|atelosteogenesis type 1|mental retardation, x-linked, syndromic, lubs type|ao1

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATELOSTEOGENESIS TYPE I

Osteoglophonic dwarfism (OGD) is characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth.

OSTEOGLOSPHONIC DYSPLASIA Is also known as osteoglophonic dwarfism

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Hypertelorism
  • Failure to thrive
  • Micrognathia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about OSTEOGLOSPHONIC DYSPLASIA

The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are present in 70 to 95% of cases. Cleft lip and palate, postnatal growth deficiency, cognitive impairment, and hearing loss are also consistent findings, occurring in 40 to 68% of cases. Craniosynostosis, radioulnar synostosis, and genital and vesicorenal anomalies occur in 20 to 30% of cases. Rare features include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia (omphalocele), and diastasis recti (summary by Rooryck et al., 2011).For a discussion of genetic heterogeneity of 3MC syndrome, see 3MC1 (OMIM ).

3MC SYNDROME 2; 3MC2 Is also known as ptosis of eyelids with diastasis recti and hip dysplasia|oculo-skeletal-abdominal syndrome|carnevale syndrome, formerly|osa syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about 3MC SYNDROME 2; 3MC2

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

The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are present in 70 to 95% of cases. Cleft lip and palate, postnatal growth deficiency, cognitive impairment, and hearing loss are also consistent findings, occurring in 40 to 68% of cases. Craniosynostosis, radioulnar synostosis, and genital and vesicorenal anomalies occur in 20 to 30% of cases. Rare features include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia (omphalocele), and diastasis recti (summary by Rooryck et al., 2011).For a discussion of genetic heterogeneity of 3MC syndrome, see 3MC1 (OMIM ).

3MC SYNDROME 3; 3MC3 Is also known as malpuech facial clefting syndrome, formerly|facial clefting syndrome, gypsy type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 3MC SYNDROME 3; 3MC3

SHFYNG syndrome is an autosomal dominant multisystem disorder characterized by delayed psychomotor development, intellectual disability (ID), hypotonia, and behavioral abnormalities. Additional features include contractures, feeding difficulties, and variable dysmorphic facial features. The severity of the disorder is highly variable: some patients may die in utero with fetal akinesia, whereas others can live with moderate disability. Individuals are affected only if the mutation occurs on the paternal allele, since MAGEL2 is a maternally imprinted gene (summary by Fountain et al., 2017)

PRADER-WILLI SYNDROME DUE TO A POINT MUTATION Is also known as schaaf-yang syndrome|pws due to a point mutation|pwls|prader-willi-like syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME DUE TO A POINT MUTATION

Top 5 symptoms//phenotypes associated to Cryptorchidism and Depressivity

Symptoms // Phenotype % cases
Hypertelorism Very Common - Between 80% and 100% cases
Intellectual disability Very Common - Between 80% and 100% cases
Low-set ears Common - Between 50% and 80% cases
Scoliosis Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape Midface retrusion Global developmental delay Seizures Autism Short nose Anteverted nares Hearing impairment Short stature Micropenis Myopia Constipation Abnormality of the dentition Feeding difficulties Depressed nasal bridge Anxiety Downslanted palpebral fissures Small hand Highly arched eyebrow Microcephaly Macroglossia Gastroesophageal reflux Talipes equinovarus Ptosis Muscular hypotonia of the trunk Epicanthus Telecanthus Growth delay Cleft palate Short neck Micrognathia Broad foot Hypospadias Brachydactyly Craniosynostosis

Rare Symptoms - Less than 30% cases

Caudal appendage Platyspondyly Autistic behavior Pneumonia Bilateral cleft lip and palate Recurrent infections Blepharophimosis Atrial septal defect Bilateral conductive hearing impairment Abnormality of the kidney Conductive hearing impairment Postnatal growth retardation Hydronephrosis Osteoporosis Cleft lip Increased susceptibility to fractures Epicanthus inversus Delayed skeletal maturation Absent speech Patent ductus arteriosus Delayed speech and language development Bilateral cleft lip Spasticity Supernumerary nipple Sensorineural hearing impairment Kyphosis Radioulnar synostosis Long philtrum Short 5th finger Umbilical hernia Apnea Diastasis recti Facial hypotonia Clinodactyly Cleft upper lip Talipes Sleep apnea Malar flattening Hyperlordosis Ventricular septal defect Omphalocele Abnormal heart morphology Flexion contracture Everted lower lip vermilion Hypoventilation Osteopenia Obesity Protruding ear Inguinal hernia Agenesis of corpus callosum Brachycephaly Cerebral cortical atrophy Short foot Hernia Abnormal cardiac septum morphology Mandibular prognathia Downturned corners of mouth Sleep disturbance Camptodactyly Failure to thrive in infancy High palate Dysphasia Aganglionic megacolon Cognitive impairment Strabismus Wide intermamillary distance Tented upper lip vermilion Frontal bossing Hypoplasia of penis Failure to thrive Muscular hypotonia Respiratory distress Behavioral abnormality Abnormality of the clavicle Depressed nasal tip Shallow orbits Spondyloepimetaphyseal dysplasia Broad philtrum Broad palm Hypoplasia of the musculature Limited elbow movement Esodeviation Hypophosphatemia Hypoplastic toenails Prominence of the premaxilla Short metatarsal Hypoplastic scapulae Partial abdominal muscle agenesis Cloverleaf skull Broad forehead Wide nasal bridge Multiple unerupted teeth Unerupted tooth Pseudoarthrosis Broad metacarpals Broad metatarsal Prominent nasal bridge Broad phalanx Abnormal bone ossification Abnormality of the vertebral column Abnormality of the nasopharynx Hip dislocation Joint hypermobility Renal phosphate wasting Horseshoe kidney Torticollis Chordee Ectropion Nasal obstruction Abnormal vertebral morphology Abnormality of the philtrum Anemia Arthrogryposis multiplex congenita Short palpebral fissure Decreased fetal movement Narrow forehead Esotropia Tapered finger Inability to walk Thick eyebrow Smooth philtrum Wide mouth Temperature instability Neonatal hypotonia Hypoglycemia Coarse facial features Retrognathia Polyhydramnios Hypogonadism Hyperhidrosis Respiratory insufficiency Narrow palm Multiple pterygia Urethral valve Rocker bottom foot Hyperinsulinemic hypoglycemia Misalignment of teeth Fetal akinesia sequence Hyperventilation Delayed ability to walk Short humerus Polyphagia Limited elbow extension Akinesia Open mouth Impulsivity Trigonocephaly Hyperinsulinemia Pterygium Poor suck Adducted thumb Microretrognathia Increased body weight Exotropia Prominent coccyx Penoscrotal hypospadias Optic atrophy Depressed nasal ridge Disproportionate short-limb short stature Volvulus Male pseudohermaphroditism Self-injurious behavior Encephalitis Excessive salivation Abnormality of the face Recurrent urinary tract infections Thick lower lip vermilion Abnormal hemoglobin Ambiguous genitalia Flat face Abnormality of movement Nausea and vomiting Spastic paraplegia Joint stiffness Feeding difficulties in infancy Clinodactyly of the 5th finger Blindness Profound global developmental delay U-Shaped upper lip vermilion Skin dimples Scrotal hypoplasia Irregular vertebral endplates Shawl scrotum Facial cleft Bifid scrotum Elbow dislocation Epiphyseal dysplasia Preaxial polydactyly Abnormality of the genitourinary system Spontaneous abortion Abnormality of fontanelles Wormian bones Congenital diaphragmatic hernia Renal agenesis Oral cleft Abnormality of the pinna Intellectual disability, moderate Congestive heart failure Edema Abnormality of the male genitalia Reduced number of teeth Chorea Plagiocephaly Conotruncal defect Respiratory failure Headache Vomiting Hydrocephalus Abnormality of the skeletal system Neoplasm Cerebral cortical hemiatrophy Subcortical cerebral atrophy Carcinoma Femoral hernia Abnormality of the testis Echolalia Epileptic spasms Protruding tongue Absent septum pellucidum Aphasia High forehead Nausea Apathy Osteosarcoma Visual impairment Cataract Muscle weakness Nystagmus Choroid plexus carcinoma Choroid plexus papilloma Papilloma Broad ribs Delayed eruption of teeth Choanal stenosis Broad neck Papilledema Upper limb undergrowth Loss of consciousness Increased intracranial pressure Hypertrichosis Flat occiput Mutism Visual loss Impotence Absence of secondary sex characteristics Decreased serum testosterone level Male hypogonadism Generalized joint laxity Secondary amenorrhea Sparse body hair Hypoplasia of the uterus Congenital sensorineural hearing impairment Decreased testosterone in males Abnormality of the voice Azoospermia Hypogonadotrophic hypogonadism Gynecomastia Primary amenorrhea Decreased testicular size Delayed puberty Breast hypoplasia Eunuchoid habitus Aortic regurgitation Synophrys Absence seizures Aortic valve stenosis Status epilepticus Coarctation of aorta Tetralogy of Fallot Specific learning disability Vesicoureteral reflux Irritability Female hypogonadism Renal insufficiency Ventriculomegaly Increased female libido Abnormality of body height Absence of pubertal development Non-obstructive azoospermia Hypoplasia of the ovary Microphthalmia Posteriorly rotated ears Rhizomelia Neurodegeneration Infantile muscular hypotonia Drooling Severe muscular hypotonia Aspiration Stereotypy Lower limb spasticity Intellectual disability, profound Poor speech Poor head control Severe global developmental delay Respiratory tract infection Developmental regression Rigidity Macrotia Hypothyroidism Narrow mouth Optic nerve hypoplasia Premature ovarian insufficiency Abnormality of metabolism/homeostasis Severe short stature Short phalanx of finger Bowing of the long bones Abnormal form of the vertebral bodies Choanal atresia Limb undergrowth Short metacarpal Short palm Hostility Myotonia Infantile axial hypotonia Central hypoventilation Bruxism Chronic constipation Central hypotonia Poor eye contact Progressive spasticity Recurrent respiratory infections Myopathy Pes planus Lumbar hyperlordosis Preauricular pit Hemiplegia Hyperextensible skin Accelerated skeletal maturation Amblyopia Decreased body weight Low posterior hairline Mitral valve prolapse Subcapsular cataract Webbed neck Retinal detachment Thin vermilion border Unsteady gait Joint hyperflexibility Congenital cataract Pectus carinatum Long fingers Iris hypopigmentation Intellectual disability, severe Long toe Dysphagia Macrocephaly Ataxia Left hemiplegia Dysplastic aortic valve Aplasia/Hypoplasia of the lens Abnormality of the intervertebral disk Unilateral cryptorchidism Thoracic kyphosis Shield chest Thickened helices Disproportionate short-trunk short stature Vertebral compression fractures Abnormality of the antihelix Abnormal eyebrow morphology Posterior subcapsular cataract Intermittent hyperventilation


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