Failure to thrive, and Hypospadias

Diseases related with Failure to thrive and Hypospadias

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

Top matches:

Lipoid congenital adrenal hyperplasia, the most severe disorder of steroid hormone biosynthesis, is caused by a defect in the conversion of cholesterol to pregnenolone, the first step in adrenal and gonadal steroidogenesis. All affected individuals are phenotypic females with a severe salt-losing syndrome that is fatal if not treated in early infancy (summary by Lin et al., 1991 and Bose et al., 1996).

LIPOID CONGENITAL ADRENAL HYPERPLASIA; LCAH Is also known as adrenal hyperplasia i|lipoid hyperplasia, congenital, of adrenal cortex with male pseudohermaphroditism

Related symptoms:

  • Failure to thrive
  • Hypospadias
  • Polycystic ovaries
  • Hyponatremia
  • Hyperglycemia


SOURCES: OMIM MENDELIAN

More info about LIPOID CONGENITAL ADRENAL HYPERPLASIA; LCAH

46,XY disorder of sex development due to isolated 17,20-lyase deficiency is a rare disorder of sex development due to reduced 17,20-lyase activity that affects individuals with 46,XY karyotype and is characterized by ambiguous external genitalia, including micropenis, perineal hypospadias, bifid scrotum, cryptorchidism, and a blind vaginal pouch. Blood pressure and electrolytes are normal whilst hormonal investigations show normal basal and stimulated levels of cortisol, and low basal and stimulated androgen levels.

Related symptoms:

  • Short stature
  • Failure to thrive
  • Cryptorchidism
  • Hypospadias
  • Delayed skeletal maturation


SOURCES: ORPHANET MENDELIAN

More info about 46,XY DISORDER OF SEX DEVELOPMENT DUE TO ISOLATED 17,20-LYASE 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

Other less relevant matches:

Dilated cardiomyopathy with ataxia (DCMA) is characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria.

DILATED CARDIOMYOPATHY WITH ATAXIA Is also known as mga5|dcma|3-methylglutaconic aciduria type 5|cardiomyopathy, dilated, with ataxia|mga, type v|dcma syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DILATED CARDIOMYOPATHY WITH ATAXIA

Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension.

CONGENITAL ADRENAL HYPERPLASIA DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY Is also known as combined 17-hydroxylase/17,20-lyase deficiency|cah due to 17-alpha-hydroxylase deficiency

Related symptoms:

  • Short stature
  • Failure to thrive
  • Cryptorchidism
  • Hypertension
  • Hypospadias


SOURCES: ORPHANET MENDELIAN

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

Leukoencephalopathy-thalamus and brainstem anomalies-high lactate (LTBL) syndrome is a rare, genetic neurological disorder defined by early-onset of neurologic symptoms, biphasic clinical course, unique MRI features (incl. extensive, symmetrical, deep white matter abnormalities), and increased lactate in body fluids. The severe form is characterized by delayed psychomotor development, seizures, early-onset hypotonia, and persistently increased lactate levels. The mild form usually presents with irritability, psychomotor regression after six months of age, and temporary high lactate levels, with overall clinical improvement from the second year onward.

LEUKOENCEPHALOPATHY-THALAMUS AND BRAINSTEM ANOMALIES-HIGH LACTATE SYNDROME Is also known as coxpd12|combined oxidative phosphorylation defect type 12|ltbl|leukoencephalopathy with thalamus and brainstem involvement and high lactate

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Cleft palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about LEUKOENCEPHALOPATHY-THALAMUS AND BRAINSTEM ANOMALIES-HIGH LACTATE SYNDROME

McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations.

MCKUSICK-KAUFMAN SYNDROME Is also known as kaufman-mckusick syndrome|hydrometrocolpos-postaxial polydactyly syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Failure to thrive
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about MCKUSICK-KAUFMAN SYNDROME

Squalene synthase deficiency is an autosomal recessive disorder characterized by profound developmental delay, brain abnormalities, 2/3 syndactyly of the toes, and facial dysmorphisms, as well as low total and LDL-cholesterol and abnormal urine organic acids (Coman et al., 2018). Squalene synthase deficiency has been reported in 3 patients from 2 families.

SQUALENE SYNTHASE DEFICIENCY; SQSD Is also known as neurodevelopmental disorder with low cholesterol and abnormal urine organic acids

Related symptoms:

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Micrognathia
  • Cataract


SOURCES: OMIM MENDELIAN

More info about SQUALENE SYNTHASE DEFICIENCY; SQSD

Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency is a rare, genetic, chronic, primary adrenal insufficiency disorder, due to partial loss-of-function CYP11A1 mutations, characterized by early-onset adrenal insufficiency without associated abnormal external male genitalia. Patients present with signs of adrenal crisis, including electrolite abnormalities, severe weakness, recurrent vomiting and seizures. Ultrasound reveals absent (or very small) adrenal glands.

Related symptoms:

  • Failure to thrive
  • Cryptorchidism
  • Feeding difficulties
  • Vomiting
  • Delayed skeletal maturation


SOURCES: ORPHANET MENDELIAN

More info about INHERITED ISOLATED ADRENAL INSUFFICIENCY DUE TO PARTIAL CYP11A1 DEFICIENCY

BILATERAL GENERALIZED POLYMICROGYRIA Is also known as pmgys|polymicrogyria with seizures

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about BILATERAL GENERALIZED POLYMICROGYRIA

Top 5 symptoms//phenotypes associated to Failure to thrive and Hypospadias

Symptoms // Phenotype % cases
Cryptorchidism Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Gynecomastia Uncommon - Between 30% and 50% cases
Decreased testicular size Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Failure to thrive and Hypospadias. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Male pseudohermaphroditism Congenital adrenal hyperplasia Reduced bone mineral density Intellectual disability Polycystic ovaries Decreased circulating androgen level Abnormal sex determination Female external genitalia in individual with 46,XY karyotype Ambiguous genitalia, male Elevated circulating luteinizing hormone level Absence of secondary sex characteristics Elevated circulating follicle stimulating hormone level Decreased fertility Seizures Delayed skeletal maturation Primary amenorrhea Delayed puberty Micropenis Osteoporosis

Rare Symptoms - Less than 30% cases

Agenesis of corpus callosum Hepatic steatosis Perineal hypospadias Decreased circulating renin level Acidosis Tetraparesis Growth delay Spastic tetraparesis Motor delay Intrauterine growth retardation Decreased circulating cortisol level Generalized hyperpigmentation Primary adrenal insufficiency Hypoplasia of the corpus callosum Increased circulating ACTH level Adrenocorticotropic hormone excess Urogenital sinus anomaly Irritability Cleft palate Spasticity Hypokalemia Visual impairment Polymicrogyria Hyperaldosteronism Absent speech Hypergonadotropic hypogonadism Hyponatremia Abnormality of creatine metabolism Adrenogenital syndrome Muscle weakness Adrenal hyperplasia Hypertension Decreased serum testosterone level Hypoplasia of the uterus Renal salt wasting Sparse body hair Hypoplasia of the vagina Dysmenorrhea Sparse axillary hair Primary gonadal insufficiency Sparse pubic hair Decreased fertility in females Hyperkalemia Enlarged polycystic ovaries Decreased serum estradiol Decreased fertility in males Vomiting Amenorrhea Premature birth Hypotension Dehydration Profound global developmental delay Clitoral hypertrophy Neonatal hypoglycemia Adrenal hypoplasia Feeding difficulties Bicuspid aortic valve Bilateral cryptorchidism Epicanthus Postaxial foot polydactyly Ectopic anus Urethral stricture Hydrometrocolpos Glandular hypospadias Micrognathia Cataract Depressed nasal bridge Syndactyly Optic nerve hypoplasia Posteriorly rotated ears Macrotia Retrognathia Low-set, posteriorly rotated ears Toe syndactyly Dry skin Hyperglycemia Cutaneous photosensitivity Cerebral visual impairment Sex reversal Decreased circulating aldosterone level Aplasia of the uterus Unilateral renal agenesis Intellectual disability, moderate Craniosynostosis Abnormal pyramidal sign Poor speech Sloping forehead Pachygyria Heterotopia Lissencephaly Mild short stature Severe short stature Multiple joint contractures Ectopic kidney Severe failure to thrive Cardiorespiratory arrest Duodenal atresia Abnormal corpus callosum morphology Abnormality of the spinal cord Gray matter heterotopias EEG abnormality Cerebellar hypoplasia Abnormal vagina morphology Abnormality of the Leydig cells Hypoplastic left heart Increased circulating renin level Hypovolemia Hypernatriuria Adrenal calcification Abnormality of cholesterol metabolism Generalized bronze hyperpigmentation Abnormality of prenatal development or birth Low maternal serum estriol Cerebellar atrophy Midshaft hypospadias Abnormal urine potassium concentration Induced vaginal delivery Hearing impairment Microcephaly Flexion contracture Dysarthria Wide nasal bridge Intellectual disability, severe Tarsal synostosis Patent ductus arteriosus Abnormality of the metacarpal bones Prolonged QT interval Hypoglycemia Postnatal growth retardation Dilated cardiomyopathy Sudden cardiac death Aciduria Mitral regurgitation Abnormality of the genital system Hypokinesia Congestive heart failure Microcytic anemia 3-Methylglutaconic aciduria Microvesicular hepatic steatosis Nonprogressive cerebellar ataxia Glutaric aciduria Testicular dysgenesis Noncompaction cardiomyopathy Arrhythmia Cardiomyopathy Penile hypospadias Alkalosis Accelerated skeletal maturation Generalized muscle weakness Failure to thrive in infancy Bifid scrotum Secondary amenorrhea Increased circulating cortisol level Feeding difficulties in infancy Metabolic alkalosis Optic atrophy Abnormality of metabolism/homeostasis Headache Female pseudohermaphroditism Hypokalemic alkalosis Myopathy Ataxia Anemia 3-Methylglutaric aciduria Normochromic microcytic anemia Renal hypoplasia/aplasia Atrial septal defect Decreased activity of mitochondrial complex I Dysplastic corpus callosum Decreased activity of mitochondrial complex III Decreased activity of mitochondrial complex IV High palate Brachydactyly Ventricular septal defect Ambiguous genitalia Ragged-red muscle fibers Hydronephrosis Finger syndactyly Anal atresia Tetralogy of Fallot Postaxial hand polydactyly Aganglionic megacolon Multicystic kidney dysplasia Macrovesicular hepatic steatosis Leukoencephalopathy Aortic root aneurysm Increased serum estradiol Abnormal EKG Hypervolemia Abnormal circulating aldosterone Generalized hypotonia Ptosis Hepatomegaly Dystonia Neonatal hypotonia Muscle stiffness Elevated hepatic transaminase Developmental regression Abnormality of the cerebral white matter Ophthalmoplegia Lactic acidosis Increased serum lactate Bradykinesia Cholestasis Short corpus callosum


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