Cryptorchidism, and Tall stature

Diseases related with Cryptorchidism and Tall stature

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


Top matches:

Medium match MENTAL RETARDATION, X-LINKED 93; MRX93


MENTAL RETARDATION, X-LINKED 93; MRX93 Is also known as mental retardation, x-linked, with macrocephaly

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Muscular hypotonia
  • Cryptorchidism
  • Delayed speech and language development


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 93; MRX93

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 51; MRD51


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 51; MRD51

Medium match POPLITEAL PTERYGIUM SYNDROME; PPS


POPLITEAL PTERYGIUM SYNDROME; PPS Is also known as cleft lip/palate, paramedian mucous cysts of the lower lip, popliteal pterygium, digital and genital anomalies|faciogenitopopliteal syndrome

Related symptoms:

  • Cleft palate
  • Cryptorchidism
  • Flexion contracture
  • Abnormality of the skeletal system
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about POPLITEAL PTERYGIUM SYNDROME; PPS

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Other less relevant matches:

Medium match AROMATASE DEFICIENCY


Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men.

AROMATASE DEFICIENCY Is also known as pseudohermaphroditism, female, due to placental aromatase deficiency|congenital estrogen deficiency

Related symptoms:

  • Growth delay
  • Pain
  • Cryptorchidism
  • Obesity
  • Delayed skeletal maturation


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AROMATASE DEFICIENCY

Medium match DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE


Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia disorder, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities.

DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE Is also known as dyssegmental dwarfism, silverman-handmaker type|anisospondylic camptomicromelic dwarfism, silverman-handmaker type

Related symptoms:

  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Wide nasal bridge
  • Talipes equinovarus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE

Medium match CONGENITAL ADRENAL HYPERPLASIA DUE TO 11-BETA-HYDROXYLASE DEFICIENCY


Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females.

CONGENITAL ADRENAL HYPERPLASIA DUE TO 11-BETA-HYDROXYLASE DEFICIENCY Is also known as cah due to 11-beta-hydroxylase deficiency|cyp11b1 deficiency

Related symptoms:

  • Short stature
  • Feeding difficulties
  • Hypertension
  • Vomiting
  • Delayed skeletal maturation


SOURCES: ORPHANET MENDELIAN

More info about CONGENITAL ADRENAL HYPERPLASIA DUE TO 11-BETA-HYDROXYLASE DEFICIENCY

Medium match OVERGROWTH-MACROCEPHALY-FACIAL DYSMORPHISM SYNDROME


This syndrome is characterised by tall stature, learning difficulties and facial dysmorphism.

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Strabismus
  • Abnormal facial shape
  • Macrocephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about OVERGROWTH-MACROCEPHALY-FACIAL DYSMORPHISM SYNDROME

Medium 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

Medium match ISOLATED HEMIHYPERPLASIA


Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma (see this term) and hepoblastoma.

ISOLATED HEMIHYPERPLASIA Is also known as hemicorporal hypertrophy|hemi 3 syndrome|hemihypertrophy, isolated|hemihyperplasia|isolated hemihypertrophy|hhp

Related symptoms:

  • Seizures
  • Scoliosis
  • Neoplasm
  • Cryptorchidism
  • Hydrocephalus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ISOLATED HEMIHYPERPLASIA

Top 5 symptoms//phenotypes associated to Cryptorchidism and Tall stature

Symptoms // Phenotype % cases
Overgrowth Uncommon - Between 30% and 50% cases
Macrocephaly Uncommon - Between 30% and 50% cases
Inguinal hernia Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Facial asymmetry Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Cleft palate Generalized hypotonia Seizures Autistic behavior Intellectual disability, mild Delayed speech and language development

Rare Symptoms - Less than 30% cases


Abnormality of cardiovascular system morphology Embryonal neoplasm Talipes equinovarus Neoplasm Umbilical hernia Clitoral hypertrophy Micropenis Hypoplasia of the vagina Large for gestational age Neurofibromas Ataxia Nephroblastoma Ambiguous genitalia, female Bilateral cryptorchidism Hirsutism Osteoporosis Enlarged polycystic ovaries Delayed skeletal maturation Hemihypertrophy Posteriorly rotated ears Ambiguous genitalia Frontal bossing Global developmental delay Accelerated skeletal maturation Abnormal facial shape Increased circulating ACTH level Premature birth Omphalocele Abnormality of the face Abnormality of the outer ear Adrenocorticotropic hormone excess Hypovolemia Decreased fertility in females Fused labia minora Congenital adrenal hyperplasia Abnormality of the ureter Enlarged kidney Abnormality of the menstrual cycle Urogenital sinus anomaly Neonatal hypoglycemia Decreased circulating renin level Nevus flammeus Decreased circulating aldosterone level Diastasis recti Abnormal vagina morphology Macroglossia Hypoglycemia Abnormality of the kidney Early onset of sexual maturation Abnormality of prenatal development or birth Enlarged ovaries Ectopic adrenal gland Accelerated bone age after puberty Premature adrenarche Hyperpigmented genitalia Abnormality of the labia majora Female sexual dysfunction Visceromegaly Abnormal circulating aldosterone Abnormality of hair growth rate Increased circulating androgen level Hypernatriuria Muscle weakness Hepatomegaly Ventricular septal defect Splenomegaly Decreased fertility in males Clinodactyly Abnormal heart morphology Adrenogenital syndrome Polyhydramnios Hypervolemia Thin upper lip vermilion Rhabdomyosarcoma Carcinoma Wide anterior fontanel Oculomotor apraxia Aplasia/Hypoplasia of the corpus callosum Triphalangeal thumb Aplasia/Hypoplasia of the cerebellum Prominent occiput Molar tooth sign on MRI Nephronophthisis Abnormality of the clavicle Scoliosis Hydrocephalus Abnormality of the dentition Hernia Bicuspid aortic valve Congenital diaphragmatic hernia Skeletal muscle hypertrophy Multiple lipomas Impaired pain sensation Increased circulating cortisol level Myelomeningocele Communicating hydrocephalus Pheochromocytoma Adrenocortical adenoma Asymmetric growth Asymmetry of the thorax Hepatoblastoma Leiomyosarcoma Hemifacial hypertrophy Apraxia Sloping forehead Abdominal wall defect Abnormality of the sternum Anterior creases of earlobe Auricular pit Hearing impairment Strabismus Downslanted palpebral fissures Long philtrum Menstrual irregularities Pectus carinatum Broad forehead Pulmonic stenosis Broad nasal tip Thick lower lip vermilion Optic nerve hypoplasia Speech apraxia Postaxial hand polydactyly Unilateral cryptorchidism Abnormal pulmonary valve morphology Cranial asymmetry Aplasia/Hypoplasia of the optic nerve Hypertelorism Sensorineural hearing impairment Intellectual disability, severe Hypospadias Polydactyly Retinopathy Postaxial polydactyly Retinal dystrophy Dandy-Walker malformation Long penis Gynecomastia Decreased circulating cortisol level Lower lip pit Scrotal hypoplasia Pterygium Bifid scrotum Hypoplasia of the uterus Cutaneous finger syndactyly Bilateral cleft lip Bilateral cleft lip and palate Hypoplastic labia majora Labial hypoplasia Ankyloblepharon Popliteal pterygium Abnormality of the scrotum Fibrous syngnathia Abnormality of the genital system Absent scrotum Intercrural pterygium Pyramidal skinfold extending from the base to the top of the nails Growth delay Pain Obesity Hypogonadism Diabetes mellitus Osteopenia Genu valgum Infertility Hepatic steatosis Spina bifida occulta Bifid uvula Amenorrhea Epicanthus Muscular hypotonia Kyphosis Pectus excavatum Prominent forehead Macrotia Pes planus Protruding ear Long face Triangular face Pointed chin Cupped ear Motor delay Ventriculomegaly Cleft upper lip Immunodeficiency Absent speech Autism Proptosis Microtia Abnormality of the foot Febrile seizures Flexion contracture Abnormality of the skeletal system Syndactyly Dementia Cleft lip Toe syndactyly Postural instability Abnormality of the cardiovascular system Renal salt wasting Feeding difficulties Depressed nasal ridge Abnormality of the metaphysis Bowing of the long bones Disproportionate short-limb short stature Short long bone Abnormality of pelvic girdle bone morphology Thoracic hypoplasia Calvarial skull defect Abnormality of the abdominal wall Neonatal short-limb short stature Anisospondyly Short stature Hypertension Pulmonary hypoplasia Vomiting Stroke Reduced bone mineral density Polycystic ovaries Hypokalemia Hyponatremia Hyperkalemia Decreased fertility Generalized hyperpigmentation Aortic root aneurysm Primary adrenal insufficiency Abnormal EKG Hyperaldosteronism Blue sclerae Flat face Type II diabetes mellitus Ovarian cyst Epidermal acanthosis Primary amenorrhea Insulin resistance Bone pain Hypergonadotropic hypogonadism Generalized hirsutism Hyperlipidemia Acanthosis nigricans Acne Male infertility Delayed epiphyseal ossification Macroorchidism Eunuchoid habitus Micromelia Female pseudohermaphroditism Female infertility Macroorchidism, postpubertal Maternal virilization in pregnancy Micrognathia Wide nasal bridge Respiratory insufficiency Atrial septal defect Malar flattening Severe short stature Narrow mouth Joint stiffness Narrow chest Hemiareflexia



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