Cryptorchidism, and Feeding difficulties in infancy

Diseases related with Cryptorchidism and Feeding difficulties in infancy

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


Top matches:

High match INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME


Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by borderline to severe intellectual disability, global development delay, feeding difficulties, microcephaly, short stature and mild facial dysmorphism, including thick eyebrows, long eyelashes, prominent incisors and/or thin upper lip. Other associated features may include hypermetropia with or without esotropia, behavioral anomallies (e.g. autistic behavior, sleeping disturbances), urogenital abnormalities (e.g. crytorchidism, inguinal hernia), single palmar crease, fifth-finger clinodactyly and cardiac defects (e.g. ASD, PDA).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME

Medium match ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY


ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY Is also known as adrenal hyperplasia v|17-alpha-hydroxylase deficiency

Related symptoms:

  • Muscle weakness
  • Cryptorchidism
  • Hypertension
  • Myopathy
  • Headache


SOURCES: OMIM ORPHANET MENDELIAN

More info about ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY

Medium match SUDDEN INFANT DEATH-DYSGENESIS OF THE TESTES SYNDROME


Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes.

SUDDEN INFANT DEATH-DYSGENESIS OF THE TESTES SYNDROME Is also known as siddt

Related symptoms:

  • Growth delay
  • Cryptorchidism
  • Abnormality of metabolism/homeostasis
  • Arrhythmia
  • Hyporeflexia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SUDDEN INFANT DEATH-DYSGENESIS OF THE TESTES SYNDROME

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium match BOWEN-CONRADI SYNDROME


Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, macrocephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet.

BOWEN-CONRADI SYNDROME Is also known as bowen syndrome, hutterite type|bowen hutterite syndrome, formerly

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BOWEN-CONRADI SYNDROME

Medium match GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES; GRDF


Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Cryptorchidism
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES; GRDF

Medium match FREEMAN-SHELDON SYNDROME


Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis.

FREEMAN-SHELDON SYNDROME Is also known as craniocarpotarsal dystrophy|craniocarpotarsal dysplasia|distal arthrogryposis type 2a|whistling face syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about FREEMAN-SHELDON SYNDROME

Medium match CONGENITAL MUSCULAR DYSTROPHY-RESPIRATORY FAILURE-SKIN ABNORMALITIES-JOINT HYPERLAXITY SYNDROME


CONGENITAL MUSCULAR DYSTROPHY-RESPIRATORY FAILURE-SKIN ABNORMALITIES-JOINT HYPERLAXITY SYNDROME Is also known as congenital muscular dystrophy, davignon-chauveau type

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Cryptorchidism
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY-RESPIRATORY FAILURE-SKIN ABNORMALITIES-JOINT HYPERLAXITY SYNDROME

Medium match WEAVER SYNDROME


Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry.

WEAVER SYNDROME Is also known as camptodactyly-overgrowth-unusual facies syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MENDELIAN

More info about WEAVER SYNDROME

Medium match X-LINKED LISSENCEPHALY WITH ABNORMAL GENITALIA


X-linked lissencephaly with abnormal genitalia (XLAG) is a rare, genetic, central nervous system malformation disorder characterized, in males, by lissencephaly (with posterior predominance and moderately thickened cortex), complete absence of corpus callosum, neonatal-onset (mainly perinatal) intractable seizures, postnatal microcephaly, severe hypotonia, poor responsiveness and hypogonadism (micropenis, hypospadias, cryptorchidism, small scrotal sac). Defective temperature regulation and chronic diarrhea may be additionally observed.

X-LINKED LISSENCEPHALY WITH ABNORMAL GENITALIA Is also known as xlisg|xlag (x-linked lissencephaly with abnormal genitalia) syndrome|lissencephaly, x-linked, with ambiguous genitalia|x-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome|xlag|x-linked lissencephaly with ambiguous genitalia

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about X-LINKED LISSENCEPHALY WITH ABNORMAL GENITALIA

Medium match CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY


Congenital fiber type disproportion myopathy (CFTDM) is a rare type of myopathy characterized by hypotonia and mild to severe generalized muscle weakness present at birth or within the first year of life.

CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY Is also known as cftdm

Related symptoms:

  • Intellectual disability
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY

Top 5 symptoms//phenotypes associated to Cryptorchidism and Feeding difficulties in infancy

Symptoms // Phenotype % cases
Short stature Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Ambiguous genitalia Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Cryptorchidism and Feeding difficulties in infancy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Motor delay Feeding difficulties Generalized hypotonia Myopathy Scoliosis Microcephaly Camptodactyly of finger Talipes equinovarus Long philtrum Hypoplasia of penis Joint stiffness High palate Growth delay Failure to thrive Patent ductus arteriosus

Rare Symptoms - Less than 30% cases


Abnormality of cardiovascular system morphology Pulmonary hypoplasia Macrocephaly Severe global developmental delay Finger clinodactyly Low-set ears Muscular hypotonia Flexion contracture Ventriculomegaly Wide nasal bridge Prominent forehead Mildly elevated creatine phosphokinase Joint laxity Respiratory insufficiency due to muscle weakness EMG: myopathic abnormalities Respiratory failure Recurrent respiratory infections Pectus excavatum Weak cry Retrognathia Polyhydramnios Downslanted palpebral fissures Gastroesophageal reflux Ptosis Hypertelorism Spasticity Ophthalmoplegia Seizures Hypospadias Accelerated skeletal maturation Strabismus Micropenis Generalized muscle weakness Abnormality of the dentition Muscle weakness Abnormality of metabolism/homeostasis Reduced tendon reflexes Scapular winging Knee flexion contracture Minicore myopathy Gastrostomy tube feeding in infancy Abnormal elasticity of skin Wide anterior fontanel Hypertonia Pes cavus Macrotia Low-set, posteriorly rotated ears Congenital hip dislocation Elbow flexion contracture Broad forehead Finger syndactyly Decreased fetal movement Inguinal hernia Pes valgus Tented upper lip vermilion Increased variability in muscle fiber diameter Type 1 muscle fiber atrophy Flexion contracture of finger Reduced vital capacity Ankle contracture Poor head control Congenital contracture Hip contracture Congenital muscular dystrophy Multiple joint contractures Long face Calf muscle hypertrophy Spinal rigidity Centrally nucleated skeletal muscle fibers Neck muscle weakness Overweight Follicular hyperkeratosis Generalized joint laxity Poor suck Waddling gait Dilated cardiomyopathy Hypohidrosis Malabsorption Profound global developmental delay Hyperreflexia Ventricular septal defect Diarrhea Agenesis of corpus callosum Hyperactivity High forehead Thin upper lip vermilion Prominent nasal bridge Exocrine pancreatic insufficiency Dry skin Gliosis Decreased testicular size Specific learning disability Pachygyria Aganglionic megacolon Postnatal microcephaly Infantile spasms Lissencephaly Chronic diarrhea Abnormally low-pitched voice Hydranencephaly Joint hyperflexibility Deep philtrum Round face Fine hair Abnormality of the metaphysis Broad thumb Tall stature Hyperlordosis Hoarse voice Abnormality of the fingernails Sandal gap Redundant skin Long upper lip Kyphoscoliosis Large hands Type I lissencephaly Temperature instability Hypoplastic toenails Broad foot Thin nail Abnormality of temperature regulation Duane anomaly Deep-set nails Severe muscular hypotonia Hernia Delayed puberty Abnormal autonomic nervous system physiology Hypokalemic alkalosis Adrenogenital syndrome Arrhythmia Hyporeflexia Myoclonus Apnea Abnormality of the eye Bradycardia Cardiac arrest Sleep apnea Congenital adrenal hyperplasia Scrotal hypoplasia Abnormality of the voice Stridor Cardiorespiratory arrest Hypothermia Tongue fasciculations Ambiguous genitalia, male Abnormal pattern of respiration Testicular dysgenesis Female pseudohermaphroditism Decreased circulating renin level Laryngospasm Primary amenorrhea Cleft palate Atrial septal defect Autistic behavior Hypermetropia Thin vermilion border Coarctation of aorta Hypertension Headache Amenorrhea Gynecomastia Perineal hypospadias Hypokalemia Failure to thrive in infancy Bifid scrotum Secondary amenorrhea Increased circulating cortisol level Male pseudohermaphroditism Hyperaldosteronism Adrenal hyperplasia Alkalosis Metabolic alkalosis Bronchospasm Partial development of the penile shaft Limb muscle weakness Nasal speech Unilateral cryptorchidism Penoscrotal hypospadias Hearing impairment Narrow mouth Deeply set eye Neurological speech impairment Underdeveloped nasal alae Oligohydramnios Depressed nasal ridge Ulnar deviation of finger Pterygium Malignant hyperthermia Dimple chin Prenatal movement abnormality Absent palmar crease Delayed speech and language development Respiratory insufficiency Hyperkeratosis Neonatal hypotonia Muscular dystrophy Melanocytic nevus Relative macrocephaly Dysplastic testes Sloping forehead Staccato cry Intrauterine growth retardation Clinodactyly Clinodactyly of the 5th finger Camptodactyly Small for gestational age Abnormality of the foot Oral cleft Prominent nose Interphalangeal joint contracture of finger Decreased body weight Short chin Rocker bottom foot Abnormal joint morphology Abnormal lung lobation Severe intrauterine growth retardation Severe postnatal growth retardation Frontal bossing Delayed skeletal maturation Small hand Triangular face Fatigable weakness of bulbar muscles



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Autoimmunity and Sparse and thin eyebrow, related diseases and genetic alterations Autoimmunity and Agenesis of corpus callosum, related diseases and genetic alterations Motor delay and Abnormality of the ribs, related diseases and genetic alterations Low-set ears and Skeletal dysplasia, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more