Obesity, and Arthrogryposis multiplex congenita

Diseases related with Obesity and Arthrogryposis multiplex congenita

In the following list you will find some of the most common rare diseases related to Obesity and Arthrogryposis multiplex congenita that can help you solving undiagnosed cases.


Top matches:

High match BARTSOCAS-PAPAS SYNDROME


Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome (see this term) characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported.

BARTSOCAS-PAPAS SYNDROME Is also known as pterygium, popliteal, lethal type|autosomal recessive popliteal pterygium syndrome|bps|lethal popliteal pterygium syndrome|multiple pterygium syndrome, aslan type|bartsocas-papas syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about BARTSOCAS-PAPAS SYNDROME

High match DIASTROPHIC DWARFISM


Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips).

DIASTROPHIC DWARFISM Is also known as diastrophic dysplasia|dd

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about DIASTROPHIC DWARFISM

High match PRADER-WILLI SYNDROME DUE TO A POINT MUTATION


SHFYNG syndrome is an autosomal dominant multisystem disorder characterized by delayed psychomotor development, intellectual disability (ID), hypotonia, and behavioral abnormalities. Additional features include contractures, feeding difficulties, and variable dysmorphic facial features. The severity of the disorder is highly variable: some patients may die in utero with fetal akinesia, whereas others can live with moderate disability. Individuals are affected only if the mutation occurs on the paternal allele, since MAGEL2 is a maternally imprinted gene (summary by Fountain et al., 2017)

PRADER-WILLI SYNDROME DUE TO A POINT MUTATION Is also known as schaaf-yang syndrome|pws due to a point mutation|pwls|prader-willi-like syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME DUE TO A POINT MUTATION

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Other less relevant matches:

High match PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME


Progeroid and marfanoid aspect-lipodystrophy syndrome is a rare systemic disease characterized by a neonatal progeroid appearance (not associated with other manifestations of premature aging) associated with facial dysmorphism (e.g. macrocephaly or arrested hydrocephaly, proptosis, downslanting palpebral fissures, retrognathia), generalized, extreme, congenital lack of subcutaneous fat tissue (except in the breast and iliac region) and incomplete signs of Marfan syndrome (mainly severe myopia, joint hyperextensibility and arachnodactyly). Metabolic disturbances are not associated.

PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME Is also known as marfanoid-progeroid syndrome|marfan-progeroid-lipodystrophy syndrome

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Abnormal facial shape
  • Hypertension
  • Myopia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME

Medium match HYPOTONIA-CYSTINURIA SYNDROME


Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism.

HYPOTONIA-CYSTINURIA SYNDROME Is also known as cystinuria with mitochondrial disease|hcs|homozygous 2p16 deletion syndrome, formerly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOTONIA-CYSTINURIA SYNDROME

Medium match EAR-PATELLA-SHORT STATURE SYNDROME


Ear-patella-short stature syndrome is an association of malformations including bilateral microtia (severe hypoplasia of ear pinnae), absent patellae, short stature, poor weight gain, and characteristic facial features such as high forehead, micrognathism with full lips and small mouth, and accentuated nasolabial folds (smile wrinkles linking the nostrils to the labial commissure).

EAR-PATELLA-SHORT STATURE SYNDROME Is also known as microtia, absent patellae, micrognathia syndrome|meier-gorlin syndrome|eps|ear, patella, short stature syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about EAR-PATELLA-SHORT STATURE SYNDROME

Medium match CARTILAGE-HAIR HYPOPLASIA


Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.

CARTILAGE-HAIR HYPOPLASIA Is also known as autosomal recessive metaphyseal chondrodysplasia|metaphyseal chondrodysplasia, mckusick type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Growth delay
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about CARTILAGE-HAIR HYPOPLASIA

Medium match COSTELLO SYNDROME


Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.

COSTELLO SYNDROME Is also known as fcs syndrome|faciocutaneoskeletal syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COSTELLO SYNDROME

Medium match MICROCEPHALIC PRIMORDIAL DWARFISM DUE TO ZNF335 DEFICIENCY


Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur.

MICROCEPHALIC PRIMORDIAL DWARFISM DUE TO ZNF335 DEFICIENCY Is also known as microcephalic primordial dwarfism, walsh type

Related symptoms:

  • Microcephaly
  • Micrognathia
  • Cataract
  • Spasticity
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROCEPHALIC PRIMORDIAL DWARFISM DUE TO ZNF335 DEFICIENCY

Top 5 symptoms//phenotypes associated to Obesity and Arthrogryposis multiplex congenita

Symptoms // Phenotype % cases
Growth delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Scoliosis Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Obesity and Arthrogryposis multiplex congenita. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Cryptorchidism Micrognathia Intrauterine growth retardation Talipes equinovarus Failure to thrive Strabismus Increased body weight Frontal bossing Respiratory insufficiency Myopia Joint hyperflexibility Talipes Hypogonadism Muscular hypotonia Hypertelorism Flexion contracture Depressed nasal bridge Gastroesophageal reflux Retrognathia Global developmental delay Severe short stature Short neck Joint laxity Delayed skeletal maturation High, narrow palate Abnormality of the skeletal system Prominent nasal bridge Epicanthus Posteriorly rotated ears Long eyelashes Low-set, posteriorly rotated ears Feeding difficulties in infancy Anteverted nares Small hand Pectus carinatum Cleft palate Low-set ears Short nose Abnormality of cardiovascular system morphology Hypertension Seizures Generalized hypotonia Abnormality of epiphysis morphology Ptosis Microcephaly High palate Feeding difficulties Abnormality of the ribs Joint hypermobility Short palpebral fissure Macrocephaly

Rare Symptoms - Less than 30% cases


Wide mouth Poor suck Decreased fetal movement Clinodactyly Hyperlordosis Constipation Large earlobe Neonatal short-limb short stature Ulnar deviation of the wrist Respiratory distress Absent speech Rocker bottom foot Hyperhidrosis Apnea Micropenis Polyhydramnios Coarse facial features Hypoglycemia Neonatal hypotonia Camptodactyly Failure to thrive in infancy Mitral valve prolapse Limited elbow extension Short chin Hernia Respiratory failure Postnatal growth retardation Small for gestational age Short palm Thick vermilion border Ventriculomegaly Thick lower lip vermilion Short ribs Genu varum Neonatal hypoglycemia Abnormality of pelvic girdle bone morphology Large face Neoplasm Cognitive impairment Hepatomegaly Cardiomyopathy Carcinoma Sparse hair Postural instability Cerebral atrophy Central hypotonia Polyphagia Ulnar deviation of finger Narrow palm Downslanted palpebral fissures Hydrocephalus Dilatation Pectus excavatum Prominent forehead Proptosis Craniosynostosis Premature birth Cutis laxa Hypocalcemia Relative macrocephaly Aortic aneurysm Reduced subcutaneous adipose tissue Narrow nose Progeroid facial appearance Hyperextensibility of the finger joints Motor delay Macrotia Intellectual disability, moderate Growth hormone deficiency Overweight Sleep disturbance Bilateral cryptorchidism Labial hypoplasia Abnormal heart morphology Hoarse voice Hearing impairment Bowing of the long bones Abnormal form of the vertebral bodies Abnormality of the metaphysis Anal stenosis Blue sclerae Narrow mouth Pes planus Hypoplasia of the maxilla Hip dysplasia Full cheeks Micromelia Camptodactyly of finger Wide intermamillary distance Blepharophimosis Kyphosis Hypoplastic labia majora Skeletal dysplasia Kyphoscoliosis Short phalanx of finger Abnormality of the outer ear Cafe-au-lait spot Disproportionate short-limb short stature Elbow dislocation Hyperextensible skin Hypoplastic toenails Pterygium Alopecia Pneumonia Sacral dimple Brain atrophy Gliosis Sparse facial hair Delayed speech and language development Severe T-cell immunodeficiency Dysarthria Delayed myelination Biconvex vertebral bodies Abnormality of humoral immunity Absent pubertal growth spurt Pulmonary lymphoma Neuronal loss in central nervous system Flaring of lower rib cage Ventricular septal defect Nystagmus Cortical gyral simplification Choanal atresia Sloping forehead Dysphagia Susceptibility to chickenpox Edema Abnormal cerebellum morphology Thickened Achilles tendon Osteopenia Alveolar rhabdomyosarcoma Hyperkeratosis Lymphangiectasis Cerebral cortical atrophy Osteoporosis Pes cavus Inguinal hernia Arrhythmia Congenital neuroblastoma Renal insufficiency Atrial septal defect Systolic heart murmur Increased corneal curvature Long philtrum Intellectual disability, mild Abnormality of the dentition Myopathy Cataract Spasticity Metaphyseal dysostosis Cerebellar atrophy Severe global developmental delay Impaired lymphocyte transformation with phytohemagglutinin Broad philtrum Non-Hodgkin lymphoma Basal cell carcinoma Thrombocytosis Exocrine pancreatic insufficiency Distal arthrogryposis Esophageal atresia Hypoplasia of the odontoid process Hodgkin lymphoma Macrocytic anemia Metaphyseal dysplasia Abnormality of the cerebrum High hypermetropia Abnormality of the hip bone Tibial bowing Femoral bowing Heart block Mesomelia Short thorax Abnormality of the cerebral cortex Squamous cell carcinoma Cone-shaped epiphysis Metaphyseal widening Portal hypertension Reduced tendon reflexes Abnormal palate morphology Neoplasm of the skin Accelerated skeletal maturation Sparse eyelashes Upper limb undergrowth Small cerebral cortex Long fibula Abnormal diaphysis morphology Narrow vertebral interpedicular distance Abnormality of the distal phalanx of finger Abnormal T cell morphology Hypoplastic anemia Abnormally ossified vertebrae Abnormal bone ossification Congenital hypoplastic anemia Spinal dysraphism Profound global developmental delay Hypersplenism Abnormality of the nervous system Mucopolysacchariduria Diaphyseal thickening Fair hair Bronchiolitis Abnormality of chromosome stability Metaphyseal cupping Cellular immunodeficiency Metaphyseal chondrodysplasia Aplasia/Hypoplasia affecting the eye Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of the pancreas Aplastic anemia B-cell lymphoma Generalized joint laxity Tracheal stenosis Normocytic anemia Tachycardia Tendon rupture Neurodevelopmental delay Limited elbow movement Generalized hyperpigmentation Rhabdomyolysis Fetal distress Bronchomalacia Papilloma Thin nail Neuroblastoma Deep plantar creases Curly hair Keratoconus Large for gestational age Abnormality of earlobe Tricuspid regurgitation Sparse and thin eyebrow Hyperglycemia Heart murmur Hematemesis Pleural effusion Redundant skin Melena Pyloric stenosis Laryngomalacia Arnold-Chiari malformation Triangular mouth Tracheomalacia Schwannoma Hemangioma Barrel-shaped chest Asymmetric septal hypertrophy Deep palmar crease Redundant neck skin Abnormality of the testis Lack of skin elasticity Fasting hypoglycemia Central apnea Verrucae Large forehead Achilles tendon contracture Thick upper lip vermilion Woolly hair Hypoplasia of teeth Broad femoral neck Megalencephaly Fragile nails Thickened nuchal skin fold Microscopic hematuria Severe postnatal growth retardation Obstructive sleep apnea Soft skin Arnold-Chiari type I malformation Concave nail Pneumothorax Syringomyelia Rhabdomyosarcoma Capillary malformation Infantile muscular hypotonia Hypertrophic cardiomyopathy Loose anagen hair Eczema Overgrowth Abnormality of the skin Neonatal sepsis Webbed neck Nevus Choroid plexus papilloma Bladder carcinoma Sepsis Macroglossia Tetraplegia Cardiomyocyte hypertrophy Ascites Embryonal rhabdomyosarcoma Macrocephaly at birth Hematuria Wide nose Abnormal mitral valve morphology Astigmatism Enlarged cerebellum Myofiber disarray Delayed puberty Pulmonic stenosis Hypermetropia Irritability Vitreomacular adhesion Multifocal atrial tachycardia Apraxia Abnormal dermatoglyphics Hyperpigmentation of the skin Acanthosis nigricans Bladder neoplasm Abnormal pulmonary valve morphology Duodenal ulcer Abnormality of the fingernails Abnormality of dental enamel Narrow palate Pointed chin Abnormality of the hair Hydrops fetalis Lymphedema Wide anterior fontanel Decreased body weight Epidermal acanthosis Hypoplasia of dental enamel Body odor Atrial fibrillation Postprandial hyperglycemia Shyness Hypopnea Concentric hypertrophic cardiomyopathy Transitional cell carcinoma of the bladder Ganglioneuroblastoma Frontal hirsutism Vestibular Schwannoma Deep-set nails Lymphopenia Joint contracture of the hand Gingival overgrowth Thoracic dysplasia Glabellar hemangioma Hypoplastic cervical vertebrae Hitchhiker thumb Cervical kyphosis Spinal deformities Flattened epiphysis Visceral angiomatosis Ulnar deviation of the hand Lethal skeletal dysplasia Irregular epiphyses Symphalangism affecting the phalanges of the hand Spinal cord compression Costal cartilage calcification Abnormality of the clavicle Hip contracture Short finger Proximal placement of thumb Overfolded helix Short long bone Abnormality of the metacarpal bones Joint dislocation Increased bone mineral density Osteoarthritis Interphalangeal joint contracture of finger Limb undergrowth Laryngotracheal stenosis Cystic lesions of the pinnae Abnormality of the foot Exotropia Hyperventilation Hypoventilation Delayed ability to walk Short humerus Akinesia Impulsivity Trigonocephaly Hyperinsulinemia Adducted thumb Sleep apnea Microretrognathia Open mouth Hypertrophic auricular cartilage Narrow forehead Esotropia Tapered finger Short foot Inability to walk Thick eyebrow Smooth philtrum Autistic behavior Mandibular prognathia Autism Depressivity Brachydactyly Cerebral calcification Joint stiffness Misalignment of teeth Sparse scalp hair Anonychia Mask-like facies Absent eyebrow Cupped ear Ectropion Renal hypoplasia/aplasia Narrow palpebral fissure Opacification of the corneal stroma Short thumb Abnormality of the genital system Omphalocele Renal hypoplasia Truncal obesity Small nail Ambiguous genitalia Underdeveloped nasal alae Oral cleft Cleft upper lip Confusion Toe syndactyly Corneal opacity Finger syndactyly Cleft lip Microphthalmia Syndactyly Aplasia/Hypoplasia of the eyebrow Absent thumb Arthralgia Aplasia/Hypoplasia of the distal phalanges of the toes Recurrent respiratory infections Midface retrusion Pain Symblepharon Bilateral cleft palate Sparse lower eyelashes Oral synechia Adactyly Unilateral renal hypoplasia Hypoplastic male external genitalia Synostosis of joints Popliteal pterygium Multiple cafe-au-lait spots Ankyloblepharon Sparse or absent eyelashes Short sternum Alopecia totalis Prominent superficial veins Eyelid coloboma Hypoplastic scapulae Skin tags Absent eyelashes Median cleft lip Aplasia cutis congenita Facial cleft Fetal akinesia sequence Hyperinsulinemic hypoglycemia Abnormality of retinal pigmentation Hyperconvex nail Incomplete partition of the cochlea type II Flat glenoid fossa Microtia, third degree Short ear Absent sternal ossification Abnormality of the patella Small anterior fontanelle Mandibular aplasia Birth length less than 3rd percentile Hypoplastic labia minora Clitoral hypoplasia Breast aplasia Morgagni diaphragmatic hernia Epispadias Aplastic clavicle Aplasia/Hypoplasia of the patella Lateral clavicle hook Osteochondritis Dissecans Unilateral cryptorchidism Breast hypoplasia Anotia Patellar aplasia Breech presentation Aseptic necrosis Shawl scrotum Absent glenoid fossa Anemia Cutaneous finger syndactyly Neutropenia Rhizomelia Bronchiectasis Aganglionic megacolon Depressed nasal ridge Fine hair Lumbar hyperlordosis Convex nasal ridge Decreased antibody level in blood Gastrointestinal hemorrhage Lymphoma Hypopigmentation of the skin Narrow chest Visual impairment Malabsorption Hypotrichosis Leukemia Abnormal cardiac septum morphology EEG abnormality Brachycephaly Thrombocytopenia Recurrent infections Immunodeficiency Splenomegaly Diarrhea Wide nasal bridge Submucous cleft hard palate Thin ribs Excessive salivation Severe intrauterine growth retardation Dolichocephaly Facial palsy Acidosis Areflexia Intellectual disability, severe Fatigue Muscle weakness Prominent scalp veins Dural ectasia Pes valgus Entropion Scaphocephaly Nephrolithiasis Aortic root aneurysm Ectopia lentis Lipodystrophy Tall stature High myopia Oligohydramnios Bruising susceptibility Arachnodactyly Intermittent hyperventilation Temperature instability Multiple pterygia Abnormality of the philtrum Lactic acidosis Hypergonadotropic hypogonadism Disproportionate short stature Microdontia Slender long bone Severe hearing impairment Emphysema Bilateral talipes equinovarus Mild short stature Clitoral hypertrophy Atresia of the external auditory canal Hemivertebrae Coxa valga Thin skin Hypoplasia of penis Specific learning disability Severe muscular hypotonia Bifid uvula Genu valgum Microtia High forehead Dyspnea Clinodactyly of the 5th finger Hypospadias Cystinuria Severe failure to thrive Abnormality of mitochondrial metabolism Nasal speech Tented upper lip vermilion Abnormal neuron morphology



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