Edema, and Primary amenorrhea

Diseases related with Edema and Primary amenorrhea

In the following list you will find some of the most common rare diseases related to Edema and Primary amenorrhea that can help you solving undiagnosed cases.

Top matches:

DENYS-DRASH SYNDROME; DDS Is also known as nephropathy, wilms tumor, and genital anomalies|drash syndrome|wilms tumor and pseudo- or true hermaphroditism

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Nystagmus
  • Neoplasm
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about DENYS-DRASH SYNDROME; DDS

McKusick-Kaufman syndrome is an autosomal recessive disorder characterized by genitourinary malformations, especially hydrometrocolpos, polydactyly, and, more rarely, heart or gastrointestinal malformations (summary by Schaefer et al., 2011).

MCKUSICK-KAUFMAN SYNDROME; MKKS Is also known as hydrometrocolpos syndrome|kaufman-mckusick syndrome|hmcs|hydrometrocolpos, postaxial polydactyly, and congenital heart malformation

Related symptoms:

  • Cryptorchidism
  • Abnormality of the skeletal system
  • Respiratory distress
  • Edema
  • Syndactyly


SOURCES: OMIM MENDELIAN

More info about MCKUSICK-KAUFMAN SYNDROME; MKKS

Arhinia-choanal atresia-microphthalmia is a malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.

ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME Is also known as arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Cleft palate
  • Cataract
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME

Other less relevant matches:

Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe (Filosto et al., 2003; Luoma et al., 2004).PEO caused by mutation in the POLG gene is associated with more complicated phenotypes than those forms caused by mutation in the ANT1 or C10ORF2 genes (Lamantea et al., 2002). Genetic Heterogeneity of Autosomal Dominant Progressive External Ophthalmoplegia with DNA DeletionsSee also PEOA2 (OMIM ), caused by mutation in the ANT1 gene (SLC25A4 ) on chromosome 4q34; PEOA3 (OMIM ), caused by mutation in the twinkle gene (C10ORF2 ) on chromosome 10q24; PEOA4 (OMIM ), caused by mutation in the POLG2 gene (OMIM ) on chromosome 17q; PEOA5 (OMIM ), caused by mutation in the RRM2B gene (OMIM ) on chromosome 8q23; and PEOA6 (OMIM ), caused by mutation in the DNA2 gene (OMIM ) on chromosome 10q.

AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA Is also known as progressive external ophthalmoplegia, autosomal dominant 1|adpeo

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA

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

Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by Tartaglia et al., 2002). Genetic Heterogeneity of Noonan SyndromeSee also NS3 (OMIM ), caused by mutation in the KRAS gene (OMIM ); NS4 (OMIM ), caused by mutation in the SOS1 gene (OMIM ); NS5 (OMIM ), caused by mutation in the RAF1 gene (OMIM ); NS6 (OMIM ), caused by mutation in the NRAS gene (OMIM ); NS7 (OMIM ), caused by mutation in the BRAF gene (OMIM ); NS8 (OMIM ), caused by mutation in the RIT1 gene (OMIM ); NS9 (OMIM ), caused by mutation in the SOS2 gene (OMIM ); and NS10 (OMIM ), caused by mutation in the LZTR1 gene (OMIM ).See also NS2 (OMIM ) for a possible autosomal recessive form of NS; Noonan syndrome-like disorder with loose anagen hair-1 (NSLH1 ), caused by mutation in the SHOC2 gene (OMIM ); Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2 ), caused by mutation in the PPP1CB gene (OMIM ); and Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL ), caused by mutation in the CBL gene (OMIM ).Mutations in the neurofibromin gene (NF1 ), which is the site of mutations causing classic neurofibromatosis type I (NF1 ), have been found in neurofibromatosis-Noonan syndrome (NFNS ).

NOONAN SYNDROME 1; NS1 Is also known as female pseudo-turner syndrome|male turner syndrome|noonan syndrome|turner phenotype with normal karyotype

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 1; NS1

Cornelia de Lange syndrome (CdLS) is a multisystem disorder with variable expression marked by a characteristic facial dysmorphism, variable degrees of intellectual deficit, severe growth retardation beginning before birth (2nd trimester), abnormal hands and feet (oligodactyly, or sometimes an even more severe amputation, and constant brachymetacarpia of the first metacarpus), and various other malformations (heart, kidney etc.).

CORNELIA DE LANGE SYNDROME Is also known as brachmann-de lange syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about CORNELIA DE LANGE SYNDROME

Low match H SYNDROME

H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).

H SYNDROME Is also known as sinus histiocytosis and massive lymphadenopathy|hjcd|shml|hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss|h syndrome|faisalabad histiocytosis|pigmented hypertrichosis wi

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about H SYNDROME

Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (OMIM ) region.See also the chromosome 15q11-q13 duplication syndrome (OMIM ), which shows overlapping clinical features.

PRADER-WILLI SYNDROME; PWS Is also known as prader-labhart-willi syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME; PWS

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

Top 5 symptoms//phenotypes associated to Edema and Primary amenorrhea

Symptoms // Phenotype % cases
Amenorrhea Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Micropenis Common - Between 50% and 80% cases
Hypogonadism Common - Between 50% and 80% cases
Diabetes mellitus Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Edema and Primary amenorrhea. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

High palate Sensorineural hearing impairment Delayed puberty Failure to thrive Cryptorchidism Seizures Hearing impairment Hernia Nystagmus Hypertelorism Neoplasm Cataract Short stature Cognitive impairment Fever Ptosis Intellectual disability, mild Hypospadias Atrial septal defect Abnormality of cardiovascular system morphology Obesity Epicanthus Myopia Ventricular septal defect Choanal atresia Peripheral neuropathy Gastroesophageal reflux Hypothyroidism Osteoporosis Clinodactyly Truncal obesity Micrognathia Generalized hypotonia Low-set, posteriorly rotated ears Dental malocclusion Hypogonadotrophic hypogonadism Strabismus Depressed nasal bridge Growth delay Ventriculomegaly Hypotrichosis Gonadal dysgenesis Hypergonadotropic hypogonadism Alopecia Abdominal distention Glucose intolerance Global developmental delay Hypertension Cleft palate

Rare Symptoms - Less than 30% cases

Bilateral sensorineural hearing impairment Fatigue Gait disturbance Posteriorly rotated ears Decreased testicular size Skeletal muscle atrophy Myopathy Dysarthria Triangular face Muscle weakness Polyneuropathy Hypertonia Sparse hair Camptodactyly Proptosis Sleep apnea Frontal bossing Scoliosis Delayed speech and language development Increased body weight Downslanted palpebral fissures Abnormal cardiac septum morphology Abnormal heart morphology Psychosis Depressivity Retinopathy Abnormality of extrapyramidal motor function Abnormal facial shape Pain Sensory neuropathy Osteopenia Left ventricular hypertrophy Feeding difficulties Hypoplastic labia majora Apnea Brachydactyly Kyphosis Short neck Decreased serum testosterone level Patent ductus arteriosus Premature ovarian insufficiency Anxiety Vomiting Congestive heart failure Splenomegaly Dilatation Autism Full cheeks Pectus excavatum Constipation Growth hormone deficiency Hyporeflexia Microcephaly Leukemia Hyperreflexia Emotional lability Lymphedema Failure to thrive in infancy Oligomenorrhea Radial deviation of finger Leukocytosis Nonimmune hydrops fetalis Short nose Intellectual disability, severe Congenital diaphragmatic hernia Anteverted nares Intrauterine growth retardation Generalized hirsutism Poor suck Hip dysplasia Rod-cone dystrophy Syndactyly Muscular hypotonia Attention deficit hyperactivity disorder Sleep disturbance Streak ovary Short foot Small hand Downturned corners of mouth Lethargy Abdominal obesity Low-set ears Plagiocephaly Wide intermamillary distance Scrotal hypoplasia Abnormality of the kidney Conductive hearing impairment Low posterior hairline Synophrys Clumsiness Renal insufficiency Weight loss Respiratory insufficiency Striae distensae Azoospermia Delayed skeletal maturation Bicuspid aortic valve Visual impairment Bruising susceptibility Flat face Recurrent fractures Overgrowth Neurological speech impairment Ichthyosis Stridor Talipes Cleft upper lip Hip dislocation Toe syndactyly Psoriasiform dermatitis Feeding difficulties in infancy Lipodystrophy Gingival overgrowth Type I diabetes mellitus Aspiration Gynecomastia Joint stiffness Hyperpigmentation of the skin Abnormality of the foot Osteolysis Telangiectasia Mitral valve prolapse Bronchiectasis Hypertrichosis Hypertriglyceridemia Blue sclerae Elbow flexion contracture Epistaxis Epidermal acanthosis Cardiomegaly Lymphadenopathy Microcornea Malabsorption Abnormality of the ulna Obsessive-compulsive behavior Pneumonia Aplasia/Hypoplasia of the cerebellum Cutis marmorata Hypoplastic nipples Oligodactyly Blepharitis Severe postnatal growth retardation Hydrocephalus Short 1st metacarpal Elbow dislocation Abnormality of the uterus Wide nasal bridge Hepatomegaly Flexion contracture Volvulus Increased nuchal translucency Abnormally low-pitched voice Curly eyelashes Prenatal movement abnormality Proximal placement of thumb Severe short stature Micromelia Vesicoureteral reflux Pectus carinatum Thin vermilion border Thick eyebrow Hepatosplenomegaly Pes planus Dyspnea Highly arched eyebrow Delayed eruption of teeth Phthisis bulbi Premature birth Radioulnar synostosis Intestinal malrotation Hypoplasia of penis Long eyelashes Low anterior hairline Bilateral single transverse palmar creases Multicystic kidney dysplasia Hyperkeratosis Widely spaced teeth Atresia of the external auditory canal Pyloric stenosis Anemia Bilateral camptodactyly Hyperglycemia Hypoplasia of the fovea Hypoventilation Iris hypopigmentation Abnormality of lipid metabolism Central hypotonia Overweight Acrocyanosis Chromosome breakage Pulmonary embolism Ocular albinism Hypothermia Generalized hypopigmentation Cor pulmonale Poor fine motor coordination Anteverted ears Clitoral hypoplasia Hypopigmentation of hair Impaired pain sensation Erysipelas Large hands Aortic valve stenosis Spontaneous abortion Narrow palpebral fissure Infantile muscular hypotonia Nasal speech Precocious puberty Hyperinsulinemia Inflammation of the large intestine Myeloid leukemia Albinism Skeletal muscle hypertrophy Adrenal insufficiency Decreased muscle mass External genital hypoplasia Polyphagia Narrow nasal bridge Frontal upsweep of hair Disseminated intravascular coagulation Insulin resistance Abnormality of the menstrual cycle Vertebral compression fractures Ecchymosis Poor wound healing Biconcave vertebral bodies Facial erythema Increased circulating ACTH level Peripheral edema Pituitary adenoma Mood changes Menometrorrhagia Adrenocorticotropic hormone excess Moon facies Dorsocervical fat pad Macronodular adrenal hyperplasia Abnormal fear/anxiety-related behavior Alkalosis Meningioma Triangular mouth Poor gross motor coordination Temperature instability Central adrenal insufficiency Hypoplastic labia minora Psychotic episodes Narrow palm Hypopnea Almond-shaped palpebral fissure Acromicria Increased circulating cortisol level Hirsutism Round face Thin skin Nephrolithiasis Hypokalemia Acne Hyperparathyroidism Bradycardia Cutaneous photosensitivity Hallux valgus Myelofibrosis Abnormality of cardiovascular system physiology Pancreatic hypoplasia Broad finger Hyperplasia of the maxilla Corneal arcus Generalized lymphadenopathy Facial telangiectasia Reticulocytopenia Panniculitis Episcleritis Snoring Stiff skin Cervical lymphadenopathy Upper eyelid edema Retroperitoneal fibrosis Chronic rhinitis Histiocytosis Motor delay Severe sensorineural hearing impairment Increased antibody level in blood Elevated erythrocyte sedimentation rate Microcytic anemia Lipoatrophy Scleroderma Polycythemia Episodic fever Exocrine pancreatic insufficiency Skin nodule Enlarged kidney Abnormal eyebrow morphology Aspiration pneumonia Varicose veins Communicating hydrocephalus Recurrent pharyngitis Nasal obstruction Seborrheic keratosis Talipes equinovarus Type II diabetes mellitus Sepsis Infertility Arachnodactyly Polymicrogyria Short palm Tapered finger Hypopigmentation of the skin Gastrointestinal hemorrhage Carious teeth Esotropia Febrile seizures Specific learning disability Abnormality of the cardiovascular system Narrow forehead Oligohydramnios Decreased fetal movement Genu valgum Hypermetropia Abnormality of the dentition Thin upper lip vermilion Behavioral abnormality Recurrent respiratory infections Prominent forehead Upslanted palpebral fissure Hyperactivity Respiratory failure Narrow mouth Photophobia Pruritus Hypoglycemia Neonatal hypotonia Abnormality of the nervous system Abnormality of the pinna Respiratory tract infection Stroke Dolichocephaly Macrotia Abnormal bleeding Glaucoma Frontal encephalocele Elevated hepatic transaminase Rigidity Acidosis Gait ataxia Pes cavus Elevated serum creatine phosphokinase Arrhythmia Cerebellar atrophy Dysphagia Tremor Ataxia Absent paranasal sinuses Aplasia of the nose Aplasia/Hypoplasia involving the nose Myalgia Abnormality of the sense of smell Lacrimal duct stenosis Diastema Hypoplasia of teeth Lacrimation abnormality Hyposmia Agenesis of permanent teeth Preauricular pit Anophthalmia Limb-girdle muscular dystrophy Reduced number of teeth Anosmia Encephalocele Proximal muscle weakness Facial palsy Hypoplasia of the maxilla Palpitations Abnormality of mitochondrial metabolism Dysphonia Easy fatigability Goiter Ventricular arrhythmia EMG: myopathic abnormalities Ragged-red muscle fibers External ophthalmoplegia Exercise intolerance Sensorimotor neuropathy Cerebral visual impairment Progressive muscle weakness Frequent falls Atrial fibrillation Abnormality of the liver Bradykinesia Pigmentary retinopathy Increased serum lactate Migraine Parkinsonism Muscle cramps Coma Lactic acidosis Peripheral axonal neuropathy Abnormality of eye movement Limb muscle weakness Congenital cataract Ophthalmoplegia Dilated cardiomyopathy Broad nasal tip Iris coloboma Increased variability in muscle fiber diameter Male pseudohermaphroditism Respiratory distress Abnormality of the skeletal system Gonadal tissue inappropriate for external genitalia or chromosomal sex Ovarian gonadoblastoma True hermaphroditism Anuria Low-grade fever Uterus didelphys Ambiguous genitalia, female Diffuse mesangial sclerosis Ambiguous genitalia, male Abnormal renal physiology Gonadoblastoma Aniridia Hydronephrosis Glomerulopathy Focal segmental glomerulosclerosis Nephroblastoma Glomerulonephritis Glomerulosclerosis Abnormality of the genital system Nephrotic syndrome Ambiguous genitalia Nephropathy Stage 5 chronic kidney disease Pallor Proteinuria Recurrent infections Polydactyly Anal atresia Muscular dystrophy Penoscrotal hypospadias Corneal opacity Coloboma Cleft lip Inguinal hernia Midface retrusion Microphthalmia Hydrocolpos Pelvic mass Vesicovaginal fistula Prominent scrotal raphe Mesoaxial hand polydactyly Transverse vaginal septum Hydrometrocolpos Chordee Pulmonary hypoplasia Vaginal atresia Rectovaginal fistula Edema of the lower limbs Esophageal atresia Hydroureter Tracheoesophageal fistula Polycystic kidney dysplasia Congenital hip dislocation Abnormal vertebral morphology Hydrops fetalis Aganglionic megacolon Postaxial hand polydactyly Tetralogy of Fallot Postaxial polydactyly Ophthalmoparesis Sensory axonal neuropathy Cerebral cortical atrophy Webbed neck Cystic hygroma Neurofibromas Abnormality of color vision Abnormality of the coagulation cascade Cubitus valgus Myelodysplasia Patent foramen ovale Elevated alkaline phosphatase Pterygium Arnold-Chiari malformation Amblyopia Ventricular hypertrophy Coarctation of aorta High, narrow palate Abnormality of the vertebral column Facial asymmetry Pulmonic stenosis Broad forehead Postnatal growth retardation Hypertrophic cardiomyopathy Kyphoscoliosis Polyhydramnios Abdominal pain Thrombocytopenia Headache Cardiomyopathy Progressive alopecia Hypoplasia of the fallopian tube Male infertility Neuroblastoma Decreased serum insulin-like growth factor 1 Reduced factor XII activity Brachycephaly Clinodactyly of the 5th finger Long philtrum Postductal coarctation of the aorta Preductal coarctation of the aorta Nasogastric tube feeding Reduced factor XIII activity Gonadal neoplasm Pectus excavatum of inferior sternum Loose anagen hair Juvenile myelomonocytic leukemia Panuveitis Neurofibrosarcoma Superior pectus carinatum Abnormality of blood and blood-forming tissues Amegakaryocytic thrombocytopenia Hypoplastic aortic arch Lymphangioma Optic disc hypoplasia Asymmetry of the thorax Multiple lentigines Schwannoma Synovitis Shield chest Restrictive cardiomyopathy Atrial flutter Drusen Malignant hyperthermia Arnold-Chiari type I malformation Progressive extrapyramidal movement disorder Increased thyroid-stimulating hormone level Difficulty climbing stairs Absent Achilles reflex Acute rhabdomyolysis Multiple mitochondrial DNA deletions Impaired distal proprioception Nocturia Impaired distal vibration sensation Cytochrome C oxidase-negative muscle fibers Muscle fiber necrosis Gastroparesis Cogwheel rigidity Parkinsonism with favorable response to dopaminergic medication Testicular atrophy Abnormality of the mitochondrion Skeletal myopathy Reduced ejection fraction Progressive ophthalmoplegia Shoulder girdle muscle weakness Hypomimic face Facial diplegia Ketosis Mitochondrial myopathy Progressive external ophthalmoplegia Bipolar affective disorder Hyperthyroidism Secondary amenorrhea Rhabdomyolysis Exertional dyspnea Resting tremor Hypokinesia Subsarcolemmal accumulations of abnormally shaped mitochondria Quadriceps muscle weakness Abnormal spermatogenesis Choreoathetosis Abnormal T-wave Decreased serum estradiol Anodontia Heart block Insulin-resistant diabetes mellitus Autoimmune thrombocytopenia Hypoplasia of the uterus Aplasia/Hypoplasia of the eyebrow Flat occiput Sparse eyebrow Hyperlipidemia Purpura Hallucinations Sparse scalp hair Focal white matter lesions Myocardial infarction Fine hair Dehydration Prominent nose Abnormality of movement Arthrogryposis multiplex congenita Prominent nasal bridge Protruding ear Mental deterioration High forehead Babinski sign Abnormality of metabolism/homeostasis Dystonia Diarrhea Psychotic mentation


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