Obesity, and Joint hypermobility

Diseases related with Obesity and Joint hypermobility

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


Top matches:

Low match 1P21.3 MICRODELETION SYNDROME


1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder(see this term).

1P21.3 MICRODELETION SYNDROME Is also known as monosomy 1p21.3|del(1)p(21.3)

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Micrognathia
  • Delayed speech and language development
  • Myopia


SOURCES: ORPHANET MENDELIAN

More info about 1P21.3 MICRODELETION SYNDROME

Low match MENTAL RETARDATION, X-LINKED 21; MRX21


This form of nonsyndromic X-linked mental retardation is characterized by a spectrum of cognitive neurologic impairments or disabilities ranging from moderate mental retardation to high-functioning autism. Males are typically severely affected, but some carrier females may manifest milder deficits (summary by Piton et al., 2008).

MENTAL RETARDATION, X-LINKED 21; MRX21 Is also known as mental retardation, x-linked 34|mrx34

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 21; MRX21

Low match DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES; DIDOD


DIDOD is a disorder characterized by global developmental delay apparent from infancy, intellectual disability or learning difficulties, behavioral abnormalities, dysmorphic features, and obesity. The severity of the phenotype and additional features are variable (summary by Jansen et al., 2018).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES; DIDOD

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Other less relevant matches:

Low match ACHONDROPLASIA


Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACHONDROPLASIA

Low match FRAGILE X SYNDROME


Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features.

FRAGILE X SYNDROME Is also known as marker x syndrome|fraxa syndrome|martin-bell syndrome|mental retardation, x-linked, associated with marxq28|fragile x mental retardation syndrome|frax syndrome|fxs|x-linked mental retardation and macroorchidism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about FRAGILE X SYNDROME

Low match DESBUQUOIS SYNDROME


Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity with multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. A variant form of DBQD, Kim variant (see these terms), has also been described and is characterized by short stature and articular, minor facial and significant hand anomalies.

DESBUQUOIS SYNDROME Is also known as desbuquois dysplasia|dbqd

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about DESBUQUOIS SYNDROME

Low 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

Low match ADNP SYNDROME


ADNP syndrome is a rare, syndromic intellectual disability characterized by intellectual disability of various severity, hypotonia, global developmental delay, severely delayed speech, behavioral problems, pain insensitivity, sleep problems, seizures, structural brain anomalies, dysmorphic features, visual problems and autism.

ADNP SYNDROME Is also known as adnp-related syndromic intellectual disability-autism spectrum disorder|hvdas|mental retardation, autosomal dominant 28|mrd28|helsmoortel-van der aa syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADNP SYNDROME

Low match HYPERTRYPTOPHANEMIA


Familial hypertryptophanemia is characterized by intellectual deficit associated with behavioral problems: periodic mood swings, exaggerated affective responses and abnormal sexual behavior. Twelve cases have been reported so far. Congenital abnormalities in tryptophan metabolism appear to be responsible for the tryptophanemia and tryptophanuria.

HYPERTRYPTOPHANEMIA Is also known as hypertryptophanemia, familial

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPERTRYPTOPHANEMIA

Low match BORJESON-FORSSMAN-LEHMANN 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

Top 5 symptoms//phenotypes associated to Obesity and Joint hypermobility

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Macrocephaly Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Obesity and Joint hypermobility. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Muscular hypotonia Seizures Global developmental delay Hyperactivity Hypertelorism Joint laxity Macrotia Intellectual disability, moderate Cryptorchidism Joint hyperflexibility Scoliosis Thick vermilion border Depressed nasal bridge Short nose Aggressive behavior Autistic behavior Round face Behavioral abnormality Feeding difficulties Abnormality of the metaphysis Abnormal facial shape Ptosis Synophrys Hypermetropia Disproportionate short-limb short stature Anteverted nares Camptodactyly of finger Attention deficit hyperactivity disorder Elbow dislocation Anxiety Upslanted palpebral fissure Pes planus Pectus excavatum Kyphosis Midface retrusion Severe short stature Full cheeks Visual impairment Micrognathia Deeply set eye Depressivity Short long bone Autism Coarse facial features

Rare Symptoms - Less than 30% cases


Abnormality of the ribs Limb undergrowth Blue sclerae Bowing of the long bones Small hand Broad thumb Hirsutism Micromelia Joint stiffness Short phalanx of finger Narrow chest Neurological speech impairment Abnormal form of the vertebral bodies Self-injurious behavior Arthralgia Delayed speech and language development Relative macrocephaly Mood swings Hyperpigmentation of the skin Heterotopia Cataract Neonatal hypotonia Gastroesophageal reflux Microcephaly Absent speech Intellectual disability, severe Chronic otitis media Atrial septal defect Myopia Growth delay Cleft palate Respiratory distress Neonatal short-limb short stature Abnormality of the skeletal system Large forehead Low-set, posteriorly rotated ears Limited elbow extension Large earlobe Abnormality of neuronal migration Frontal bossing Abnormality of cardiovascular system morphology Wide mouth Mandibular prognathia Broad forehead Abnormal heart morphology Blepharophimosis High forehead Short palm Clinodactyly Interphalangeal joint contracture of finger Flexion contracture Long philtrum Dental crowding Hearing impairment Prominent supraorbital ridges High palate Impulsivity Nystagmus Broad palm Thick eyebrow Tapered finger Astigmatism Truncal obesity Intrauterine growth retardation Long ear Overweight Shyness Stereotypy Intellectual disability, mild Broad foot Broad nasal tip Macroorchidism Talipes Cerebral calcification Hernia Recurrent infections Inguinal hernia Downslanted palpebral fissures Osteoarthritis Prominent forehead Wide nasal bridge Hypertrophic auricular cartilage Thin upper lip vermilion Muscular hypotonia of the trunk Low-set ears Hypoplastic cervical vertebrae Cystic lesions of the pinnae Visceral angiomatosis Spinal cord compression Hip dysplasia Abnormality of the clavicle Irregular epiphyses Lethal skeletal dysplasia Coloboma Hip contracture Ulnar deviation of finger Short finger Proximal placement of thumb Ulnar deviation of the hand Overfolded helix Hyperextensible skin Abnormality of the metacarpal bones Costal cartilage calcification Abnormality of the outer ear Flattened epiphysis Spinal deformities Joint dislocation Ulnar deviation of the wrist Hoarse voice Cervical kyphosis Increased bone mineral density Hitchhiker thumb Thoracic dysplasia Glabellar hemangioma Laryngotracheal stenosis Abnormality of epiphysis morphology Symphalangism affecting the phalanges of the hand Tryptophanuria Microtia Amenorrhea Hypergonadotropic hypogonadism Short toe Gynecomastia Hypertrichosis Hypoplasia of penis Narrow forehead Decreased testicular size Scrotal hypoplasia Oral cleft Delayed puberty Sparse hair Abnormality of the pinna Feeding difficulties in infancy EEG abnormality Narrow palpebral fissure Hammertoe Micropenis Camptodactyly of toe Hypoplasia of the prostate Widely spaced toes Cervical spinal canal stenosis Shortening of all middle phalanges of the fingers Moderately short stature Diabetic ketoacidosis Shortening of all distal phalanges of the fingers External genital hypoplasia Short 5th finger Ketoacidosis Broad neck Hypopituitarism Thickened calvaria Abnormality of the hip bone Hypothyroidism Hypogonadism Smooth philtrum Plagiocephaly Long palpebral fissure Narrow nasal bridge Obsessive-compulsive behavior Language impairment Bilateral ptosis Widely spaced teeth Cerebral visual impairment Eyelid coloboma Exotropia Amblyopia Sparse scalp hair Thick lower lip vermilion Growth hormone deficiency Iris coloboma Inverted nipples Generalized neonatal hypotonia Abnormality of the dentition Generalized joint laxity Skeletal muscle atrophy Peripheral neuropathy Failure to thrive Head-banging Hypersexuality Stuttering Emotional lability Juvenile cataract Adducted thumb High myopia Skin rash Fever Sensorineural hearing impairment Microtia, first degree Abnormality of the foot Congenital macroorchidism Arthrogryposis multiplex congenita Disproportionate short stature Hyperlordosis Sudden cardiac death Dental malocclusion Lumbar hyperlordosis Rhizomelia Clonus Wormian bones Acanthosis nigricans Genu varum Abnormality of pelvic girdle bone morphology Flared metaphysis Mesomelia Spinal canal stenosis Conductive hearing impairment Obstructive sleep apnea Abnormality of the elbow Diaphyseal thickening Long thorax Aplasia/hypoplasia of the extremities Narrow sacroiliac notch Childhood onset short-limb short stature Abnormality of the ilium Acromelia Cognitive impairment Dilatation Cerebral cortical atrophy Protruding ear Apnea Hyperhidrosis Long face Thin vermilion border Abnormality of vision Self-mutilation Abnormal eating behavior Abnormality of skin pigmentation Everted lower lip vermilion Open mouth Tented upper lip vermilion Uplifted earlobe Maxillary lateral incisor microdontia Motor delay Epicanthus Syndactyly Short philtrum Broad-based gait Malar flattening Insulin resistance Cafe-au-lait spot Delayed gross motor development Easy fatigability Polycystic ovaries Cavum septum pellucidum Long toe Horizontal eyebrow Hyperreflexia Dysarthria Brachydactyly Ventriculomegaly Hydrocephalus Facial asymmetry Postural instability Skeletal dysplasia Patellar dislocation Single transverse palmar crease Short metacarpal Coxa valga Coxa vara Accelerated skeletal maturation Radioulnar synostosis Metaphyseal widening Epiphyseal dysplasia Acne Short femoral neck Short clavicles Abnormal eyelash morphology Bell-shaped thorax Hypotrichosis Genu recurvatum Broad ribs Aplasia/Hypoplasia of the abdominal wall musculature Toe clinodactyly Advanced ossification of carpal bones Knee dislocation Abnormality of the femoral neck or head region Pain Talipes equinovarus Respiratory insufficiency Pneumonia Recurrent respiratory infections Kyphoscoliosis Flat face Hip dislocation Otitis media Abnormal head movements Overgrowth Mitral valve prolapse Sinusitis Narrow face Hyperkinesis Premature ovarian insufficiency Large hands Polyphagia Poor eye contact Enuresis Hyperextensibility of the finger joints Ascending tubular aorta aneurysm Irregular dentition Periventricular gray matter heterotopia Pectus carinatum Oppositional defiant disorder Encopresis Finger joint hypermobility Macroorchidism, postpubertal Increased size of the mandible Folate-dependent fragile site at Xq28 Severe temper tantrums Ventricular septal defect Short neck Clinodactyly of the 5th finger Glaucoma Proptosis Postnatal growth retardation Scheuermann-like vertebral changes



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