Flexion contracture, and Amenorrhea

Diseases related with Flexion contracture and Amenorrhea

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

Top matches:

NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM Is also known as isolated congenital gonadotropin deficiency|normosmic idiopathic hypogonadotropic hypogonadism|gonadotropic deficiency|nihh

Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Cryptorchidism
  • Depressed nasal bridge
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM

Fuhrmann syndrome is mainly characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly.

FUHRMANN SYNDROME Is also known as fuhrmann syndrome|fuhrmann-rieger-de sousa syndrome|fibular hypoplasia or aplasia-femoral bowing-oligodactyly syndrome

Related symptoms:

  • Short stature
  • Flexion contracture
  • Abnormality of the skeletal system
  • Talipes equinovarus
  • Hydrocephalus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FUHRMANN SYNDROME

Limb-mammary syndrome (LMS) is a rare disease belonging to the group of ectodermal dysplasias.

LIMB-MAMMARY SYNDROME Is also known as lms

Related symptoms:

  • Cleft palate
  • Syndactyly
  • Hypogonadism
  • Camptodactyly
  • Hypodontia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about LIMB-MAMMARY SYNDROME

Other less relevant matches:

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Nystagmus
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES

Deafness-enamel hypoplasia-nail defects syndrome is characterised by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects (Beau's lines and leukonychia). Less than 10 patients have been described so far. Transmission is autosomal recessive.

DEAFNESS-ENAMEL HYPOPLASIA-NAIL DEFECTS SYNDROME Is also known as heimler syndrome|hearing loss, sensorineural, with enamel hypoplasia and nail defects|pbd1c|peroxisome biogenesis disorder 1c

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about DEAFNESS-ENAMEL HYPOPLASIA-NAIL DEFECTS SYNDROME

This syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH).

DILATED CARDIOMYOPATHY-HYPERGONADOTROPIC HYPOGONADISM SYNDROME Is also known as cardiomyopathy, dilated, with premature ovarian failure|genital anomaly with cardiomyopathy|najjar syndrome|cardiomyopathy, congestive, with hypergonadotropic hypogonadism|cardiogenital syndrome|cardiomyopathy with primary testicular failure|malouf syndro

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Cryptorchidism
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about DILATED CARDIOMYOPATHY-HYPERGONADOTROPIC HYPOGONADISM SYNDROME

Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.

WOODHOUSE-SAKATI SYNDROME Is also known as hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome|extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia|diabetes-hypogonadism-deafness-intellectual disability s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOODHOUSE-SAKATI SYNDROME

Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance.

CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME Is also known as ccfdn|cataract, congenital, with facial dysmorphism and neuropathy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME

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

Top 5 symptoms//phenotypes associated to Flexion contracture and Amenorrhea

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Hypogonadism Common - Between 50% and 80% cases
Primary amenorrhea Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Hypergonadotropic hypogonadism Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Flexion contracture and Amenorrhea. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis Abnormality of the skeletal system Decreased testicular size Hearing impairment Peripheral neuropathy Delayed puberty Secondary amenorrhea Camptodactyly Global developmental delay Micropenis Osteoporosis Abnormality of the dentition Intellectual disability, mild Talipes equinovarus Diabetes mellitus Arrhythmia Premature ovarian insufficiency Hypothyroidism Feeding difficulties Ptosis Cryptorchidism Delayed skeletal maturation Osteopenia Nystagmus Hypogonadotrophic hypogonadism Sensory neuropathy Hypoplasia of the uterus Strabismus

Rare Symptoms - Less than 30% cases

Microcephaly Abnormal facial shape High palate Wide nasal bridge Sensorineural hearing impairment Narrow palpebral fissure Narrow forehead Microcornea Hypermetropia Blepharophimosis Microphthalmia Camptodactyly of finger Hypertelorism Bilateral sensorineural hearing impairment Long eyelashes Hyperlipidemia Muscle weakness Cataract Kyphosis Polyneuropathy Proximal muscle weakness Myalgia Sparse hair Protruding ear Babinski sign Cleft palate Cognitive impairment Acanthosis nigricans Seizures Generalized hypotonia Failure to thrive Lipodystrophy Polycystic ovaries Ventricular tachycardia Atrial fibrillation Full cheeks Tachycardia Congestive heart failure Prominent supraorbital ridges External genital hypoplasia Split hand Decreased serum estradiol Gynecomastia Nail dysplasia Syndactyly Decreased serum testosterone level Short finger Depressed nasal bridge Dysmenorrhea Peripheral hypomyelination Acute rhabdomyolysis Upper limb postural tremor Malar prominence Recurrent myoglobinuria Abnormality of the cervical spine Motor axonal neuropathy Motor polyneuropathy Abnormality of peripheral nerve conduction Muscular hypotonia Genu recurvatum Malignant hyperthermia Myoglobinuria Axonal loss Rhabdomyolysis Atlantoaxial dislocation Ventricular hypertrophy Visual impairment EEG abnormality Supraventricular tachycardia Joint hyperflexibility Prominent superficial veins Abnormality of the pinna Feeding difficulties in infancy Intellectual disability, moderate Exercise-induced myalgia Deeply set eye Coarse facial features Decreased motor nerve conduction velocity Macrotia Obesity Intellectual disability, severe Ileus Generalized lipodystrophy Prolonged QTc interval Macrocephaly Skeletal muscle atrophy Axonal degeneration Fasting hyperinsulinemia Postural tremor Abnormality of skeletal muscle fiber size Cerebral atrophy Cervical spine instability Ventriculomegaly Tremor Intrauterine growth retardation Fever Motor delay Muscle mounding Cerebral cortical atrophy Micrognathia Ataxia Progressive alopecia Hypoplasia of the fallopian tube Progressive extrapyramidal movement disorder Decreased serum insulin-like growth factor 1 Streak ovary Increased thyroid-stimulating hormone level Pes cavus Kyphoscoliosis Loss of subcutaneous adipose tissue in limbs Paresthesia Thick eyebrow CNS hypomyelination Intention tremor Interphalangeal joint contracture of finger Peripheral demyelination Chorea Abnormal levels of creatine kinase in blood Small hand Polymorphic ventricular tachycardia Hypoglycemia Dysmetria Atlantoaxial instability Congenital cataract Abnormal pyramidal sign Congenital generalized lipodystrophy Abnormality of upper lip Prominent umbilicus Generalized muscle hypertrophy Oral cleft Hypoplasia of penis Tapered finger Reduced bone mineral density Atherosclerosis Neonatal hypotonia Pancreatitis Elevated hepatic transaminase Delayed gross motor development Rigidity Hepatosplenomegaly Ventricular arrhythmia Recurrent bacterial infections Constipation Elevated serum creatine phosphokinase Pyloric stenosis Hyperinsulinemia Recurrent infections Dilatation Splenomegaly Failure to thrive in infancy Accelerated skeletal maturation Exercise intolerance Myopathy Spastic paraplegia Hypertriglyceridemia Growth hormone deficiency Sudden cardiac death Generalized muscle weakness Palpitations Hepatic steatosis Hirsutism Thin skin Muscular dystrophy Pointed chin Distal muscle weakness Joint stiffness Postnatal growth retardation Hyperlordosis Insulin resistance Sparse and thin eyebrow Bradycardia Muscle stiffness Vomiting Dysphagia Epidermal acanthosis Abnormality of neuronal migration Lipoatrophy Broad neck Broad foot Hypopituitarism Thickened calvaria Abnormality of the hip bone Truncal obesity Hammertoe Short 5th finger IgA deficiency Scrotal hypoplasia Short toe Hyperpigmentation of the skin Heterotopia Protuberant abdomen Hypertrichosis Progressive proximal muscle weakness Ketoacidosis Spinal rigidity Hepatomegaly Increased variability in muscle fiber diameter Hypertension Scheuermann-like vertebral changes Abnormal spermatogenesis Widely spaced toes Cervical spinal canal stenosis Ventricular fibrillation Skeletal muscle hypertrophy Cutis marmorata Shortening of all middle phalanges of the fingers Large earlobe Mildly elevated creatine phosphokinase Moderately short stature Prolonged QT interval Diabetic ketoacidosis Long ear Reduced subcutaneous adipose tissue Camptodactyly of toe Shortening of all distal phalanges of the fingers Hypoplasia of the prostate Diarrhea Abnormal T-wave Bifid uvula Split foot Ectrodactyly Hypoplastic nipples Gonadal dysgenesis Hallux valgus Joint contracture of the hand Hypohidrosis Ectodermal dysplasia Hypodontia Epicanthus Aplasia/Hypoplasia of the 5th finger Coalescence of tarsal bones Aplasia/Hypoplasia of metatarsal bones Abnormal finger flexion creases Aplasia/Hypoplasia of the phalanges of the hand Aplasia/hypoplasia of the femur Aplasia/Hypoplasia involving the metacarpal bones Aplasia/Hypoplasia of the fibula Lacrimal duct atresia Myopia Absent toenail Epicanthus inversus Round face Ichthyosis Hyporeflexia Abnormal lacrimal duct morphology Abnormality of the breast Premature atrial contractions Female infertility Unilateral ptosis Congenital ptosis Hernia Increased circulating gonadotropin level Cupped ear Holoprosencephaly Abnormality of the hair Congenital diaphragmatic hernia Infertility Synophrys Telecanthus Foot oligodactyly Aplasia/Hypoplasia of the ulna Hypoplasia of dental enamel Male hypogonadism Absence of pubertal development Non-obstructive azoospermia Hypoplasia of the ovary Female hypogonadism Eunuchoid habitus Decreased testosterone in males Breast hypoplasia Absence of secondary sex characteristics Generalized joint laxity Increased female libido Sparse body hair Impotence Congenital sensorineural hearing impairment Abnormality of the voice Azoospermia Wide intermamillary distance Anxiety Depressivity Abnormality of body height Hydrocephalus Fibular aplasia Femoral bowing Hand oligodactyly Patellar aplasia Communicating hydrocephalus Hypoplastic pelvis Hypoplastic iliac wing Radial bowing Oligodactyly Ulnar deviation of finger Hypoplasia of the radius Clinodactyly Congenital hip dislocation Bowing of the long bones Postaxial hand polydactyly Limb undergrowth Postaxial polydactyly Toe syndactyly Finger syndactyly Cleft lip Polydactyly Cerebral calcification Abnormality of dental enamel Anodontia Hyperreflexia High forehead Alopecia Abnormality of metabolism/homeostasis Dystonia Frontal bossing Gait disturbance Downslanted palpebral fissures Dysarthria Delayed speech and language development Prominent nasal bridge Aplasia of the phalanges of the 3rd toe Thyroid hemiagenesis Myofiber disarray Puberty and gonadal disorders Primary testicular failure Sclerodactyly Testicular dysgenesis Wide nasal base Mental deterioration Arthrogryposis multiplex congenita Elevated circulating luteinizing hormone level Choreoathetosis Heart block Insulin-resistant diabetes mellitus Autoimmune thrombocytopenia Aplasia/Hypoplasia of the eyebrow Flat occiput Sparse eyebrow Purpura Hallucinations Sparse scalp hair Hypotrichosis Myocardial infarction Fine hair Psychosis Abnormality of extrapyramidal motor function Dehydration Dental malocclusion Prominent nose Triangular face Abnormality of movement Poor wound healing Abnormality of the ovary Abnormality of the fingernails Thin eyebrow Microtia Retrognathia Cardiomyopathy Abnormality of nail color Muscle flaccidity Abnormal nasolacrimal system morphology Abnormal hair quantity Leukonychia Pili torti Arachnodactyly High anterior hairline Abnormal toenail morphology Abnormal eyelid morphology Taurodontia Abnormal eyebrow morphology Amelogenesis imperfecta Macular dystrophy Large hands Dilated cardiomyopathy Wide nose Elevated circulating follicle stimulating hormone level Tricuspid regurgitation Sparse pubic hair Abnormality of the testis Poikiloderma Down-sloping shoulders Short clavicles Thoracic scoliosis Scleroderma Bilateral cryptorchidism Bilateral ptosis Abnormality of the skin Precocious puberty Short chin Spontaneous abortion Increased bone mineral density Telangiectasia Abnormality of the genital system Mitral regurgitation Cardiomegaly Convex nasal ridge Adipose tissue loss


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