Failure to thrive, and Amenorrhea

Diseases related with Failure to thrive and Amenorrhea

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

Top matches:

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

Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk.

PITUITARY STALK INTERRUPTION SYNDROME Is also known as psis|ectopic neurohypophysis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about PITUITARY STALK INTERRUPTION SYNDROME

Other less relevant matches:

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

Prohormone convertase-I deficiency is the rarest form of monogenic obesity. The disorder is characterised by severe childhood obesity, hypoadrenalism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones.

OBESITY DUE TO PROHORMONE CONVERTASE I DEFICIENCY Is also known as obesity and endocrinopathy due to impaired processing of prohormones|pci deficiency

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Diarrhea
  • Obesity
  • Delayed skeletal maturation


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about OBESITY DUE TO PROHORMONE CONVERTASE I DEFICIENCY

ACTH-independent macronodular adrenal hyperplasia (AIMAH) is a rare cause of Cushing syndrome (CS; see this term) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent CS (see this term).

CUSHING SYNDROME DUE TO MACRONODULAR ADRENAL HYPERPLASIA Is also known as cushing disease, pituitary|primary bilateral macronodular adrenal hyperplasia

Related symptoms:

  • Neoplasm
  • Failure to thrive
  • Muscle weakness
  • Hypertension
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about CUSHING SYNDROME DUE TO MACRONODULAR ADRENAL HYPERPLASIA

In decreasing order of frequency, 3 forms of Alexander disease are recognized, based on age of onset: infantile, juvenile, and adult. Younger patients typically present with seizures, megalencephaly, developmental delay, and spasticity. In older patients, bulbar or pseudobulbar symptoms predominate, frequently accompanied by spasticity. The disease is progressive, with most patients dying within 10 years of onset. Imaging studies of the brain typically show cerebral white matter abnormalities, preferentially affecting the frontal region (Gorospe et al., 2002). All 3 forms have been shown to be caused by mutations in the GFAP gene.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALEXANDER DISEASE; ALXDRD

Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes.

BORJESON-FORSSMAN-LEHMANN SYNDROME Is also known as mental retardation, x-linked, syndromic, borjeson-forssman-lehmann type|bfls|intellectual disability-epilepsy-endocrine disorders syndrome|borjeson syndrome|mrxsbfl|mental retardation, epilepsy, and endocrine disorders|borj

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about BORJESON-FORSSMAN-LEHMANN SYNDROME

Congenital generalized lipodystrophy type 4 combines the phenotype of classic Berardinelli-Seip lipodystrophy (OMIM ) with muscular dystrophy and cardiac conduction anomalies (Hayashi et al., 2009).For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4 Is also known as berardinelli-seip congenital lipodystrophy, type 4, with muscular dystrophy|lipodystrophy, berardinelli-seip congenital, type 4, with muscular dystrophy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4

Berardinelli-Seip congenital lipodystrophy (BSCL) is characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance (see these terms).

BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY Is also known as lipoatrophic diabetes|generalized congenital lipodystrophy|gcl|brunzell syndrome|bscl|beradinelli-seip syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY

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

Symptoms // Phenotype % cases
Short stature Uncommon - Between 30% and 50% cases
Primary amenorrhea Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Hypothyroidism Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Muscle weakness Hypertension Diabetes mellitus Delayed puberty Cryptorchidism Osteoporosis Micropenis Delayed skeletal maturation Osteopenia Polycystic ovaries Dysmenorrhea Gynecomastia Scoliosis Accelerated skeletal maturation Myopathy Feeding difficulties Obesity Secondary amenorrhea Hypokalemia Acanthosis nigricans Kyphosis Growth hormone deficiency Seizures Growth delay Hirsutism Hyperinsulinemia Reduced bone mineral density Male pseudohermaphroditism Hypospadias Muscle stiffness Decreased testicular size Prominent supraorbital ridges Hypergonadotropic hypogonadism Hyperlordosis

Rare Symptoms - Less than 30% cases

Elevated hepatic transaminase Generalized hypotonia Thin skin Emotional lability Generalized hirsutism Peripheral neuropathy Truncal obesity Skeletal muscle hypertrophy Oligomenorrhea Depressivity Progressive proximal muscle weakness Lipoatrophy IgA deficiency Skeletal muscle atrophy Prominent superficial veins Exercise-induced myalgia Generalized lipodystrophy Prolonged QTc interval Atlantoaxial dislocation Loss of subcutaneous adipose tissue in limbs Abnormal levels of creatine kinase in blood Glucose intolerance Congenital generalized lipodystrophy Lipodystrophy Pyloric stenosis Constipation Ptosis Vomiting Hyperhidrosis EEG abnormality Arrhythmia Myalgia Dysphagia Macrocephaly Recurrent infections Hepatic steatosis Splenomegaly Congestive heart failure Hepatomegaly Flexion contracture Broad foot Ventricular hypertrophy Muscular hypotonia Nystagmus Atrial fibrillation Sudden cardiac death Hypertriglyceridemia Palpitations Insulin resistance Bradycardia Atherosclerosis Pancreatitis Precocious puberty Epidermal acanthosis Spinal rigidity Abnormality of the skeletal system Generalized muscle weakness Hypotension Hypoglycemia Sparse axillary hair Elevated circulating follicle stimulating hormone level Congenital adrenal hyperplasia Decreased circulating renin level Alkalosis Hyperaldosteronism Increased circulating cortisol level Decreased serum testosterone level Failure to thrive in infancy Absence of secondary sex characteristics Diabetes insipidus Decreased serum estradiol Feeding difficulties in infancy Elevated circulating luteinizing hormone level Ambiguous genitalia, male Enlarged polycystic ovaries Decreased fertility in females Primary gonadal insufficiency Decreased circulating androgen level Hypoplasia of the vagina Abnormality of creatine metabolism Abnormal sex determination Decreased fertility in males Hypoplasia of penis Sparse pubic hair Female external genitalia in individual with 46,XY karyotype Hypogonadism Decreased circulating cortisol level Increased circulating ACTH level Adrenocorticotropic hormone excess Abnormality of skeletal muscle fiber size Decreased fertility Sparse body hair Hypoplasia of the uterus Hypermetropia Thick eyebrow Oral cleft Joint hyperflexibility Hypoplasia of the prostate Scheuermann-like vertebral changes Abnormality of the pinna Intellectual disability, moderate Coarse facial features Blepharophimosis Talipes equinovarus Widely spaced toes Sparse hair Dilatation Deeply set eye Tapered finger Hammertoe Full cheeks Ketoacidosis External genital hypoplasia Scrotal hypoplasia Narrow palpebral fissure Abnormality of the hip bone Short toe Thickened calvaria Hypopituitarism Hyperpigmentation of the skin Elevated serum creatine phosphokinase Broad neck Short 5th finger Abnormality of neuronal migration Large earlobe Shortening of all distal phalanges of the fingers Heterotopia Camptodactyly of toe Long ear Diabetic ketoacidosis Hypertrichosis Moderately short stature Narrow forehead Shortening of all middle phalanges of the fingers Cervical spinal canal stenosis Abnormality of upper lip Hepatosplenomegaly Immunodeficiency Ventricular fibrillation Cutis marmorata Cirrhosis Increased variability in muscle fiber diameter Mildly elevated creatine phosphokinase Abnormality of skin pigmentation Prolonged QT interval Abnormality of the foot Reduced subcutaneous adipose tissue Hypertrophic cardiomyopathy Macrotia Mandibular prognathia Renal insufficiency Nephropathy Cardiomyopathy Ventriculomegaly Protuberant abdomen Supraventricular tachycardia Ileus Adipose tissue loss Muscle mounding Fasting hyperinsulinemia Cervical spine instability Polymorphic ventricular tachycardia Generalized muscle hypertrophy Atlantoaxial instability Hepatic failure Ventricular arrhythmia Rigidity Glomerulopathy Neonatal hypotonia Proximal muscle weakness Arterial stenosis Postnatal growth retardation Prominent umbilicus Protruding ear Joint stiffness Distal muscle weakness Muscular dystrophy Spastic paraplegia Tachycardia Growth hormone excess Large hands Delayed gross motor development Abnormality of the hair Thickened skin Long eyelashes Sparse and thin eyebrow Myocardial infarction Pointed chin Exercise intolerance Recurrent bacterial infections Hyperlipidemia Pulmonary arterial hypertension Recurrent fractures Ventricular tachycardia Bone cyst Dysmetria Abnormality of the dentition Increased body weight Red hair Hypoglycemic seizures Central adrenal insufficiency Childhood-onset truncal obesity Increased adipose tissue Hypothalamic hypothyroidism Reactive hypoglycemia Neoplasm Fatigue Edema Alopecia Bruising susceptibility Round face Nephrolithiasis Acne Pituitary hypothyroidism Biconcave vertebral bodies Moon facies Menometrorrhagia Mood changes Peripheral edema Abnormality of the menstrual cycle Facial erythema Abdominal obesity Hyperparathyroidism Poor wound healing Ecchymosis Vertebral compression fractures Pituitary adenoma Meningioma Striae distensae Gonadotropin deficiency Villous atrophy Macronodular adrenal hyperplasia Ectopic posterior pituitary Headache Abnormality of metabolism/homeostasis Ambiguous genitalia Bifid scrotum Adrenal hyperplasia Metabolic alkalosis Perineal hypospadias Female pseudohermaphroditism Hypokalemic alkalosis Adrenogenital syndrome Anemia Jaundice Adrenal hypoplasia Abnormality of the hypothalamus-pituitary axis Septo-optic dysplasia Maternal diabetes Malabsorption Polyphagia Polyuria Polydipsia Hypogonadotrophic hypogonadism Cholestasis Hypopigmentation of the skin Diarrhea Abnormality of the pituitary gland Abnormal circulating aldosterone Hypervolemia Abnormal EKG Primary adrenal insufficiency Aortic root aneurysm Generalized hyperpigmentation Dorsocervical fat pad Abnormal fear/anxiety-related behavior Intellectual disability, severe Megalencephaly Leukoencephalopathy Sleep apnea Dysphonia Encephalitis Self-injurious behavior Oral-pharyngeal dysphagia Dysphasia Bowel incontinence Progressive spasticity Muscle fibrillation Atrophy/Degeneration affecting the brainstem Drowsiness Increased CSF protein Poor coordination Hypothermia Leukodystrophy Microcoria Visual impairment Cataract Strabismus Microcephaly Hearing impairment Diffuse demyelination of the cerebral white matter Hyperpigmented nevi Bulbar signs Recurrent singultus Progressive macrocephaly Pseudobulbar signs Large face Hypersomnia Aqueductal stenosis Abnormal autonomic nervous system physiology Clonus Psychotic mentation Tremor Hyporeflexia Hydrocephalus Respiratory insufficiency Short neck Frontal bossing Gait disturbance Dysarthria Dementia Hyperreflexia Motor delay High palate Cognitive impairment Spasticity Ataxia Agenesis of corpus callosum Respiratory failure Diplopia Abnormality of eye movement Cerebral calcification Peripheral demyelination Chorea Gliosis Tetraplegia Sleep disturbance Nausea and vomiting Weight loss Abnormality of the cerebral white matter Neurological speech impairment Cough Abnormal pyramidal sign Developmental regression Facial palsy Abnormal oral cavity morphology


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