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:
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:
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
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
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
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
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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