Obesity, and Ptosis

Diseases related with Obesity and Ptosis

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

Top matches:

Mitochondrial DNA depletion syndrome-12B is an autosomal recessive mitochondrial disorder characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance, and, in some patients, muscle weakness and atrophy. Skeletal muscle biopsy shows ragged-red fibers, mtDNA depletion, and accumulation of abnormal mitochondria (summary by Echaniz-Laguna et al., 2012).For a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 (OMIM ).

Related symptoms:

  • Muscle weakness
  • Cataract
  • Ptosis
  • Cognitive impairment
  • Skeletal muscle atrophy


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE; MTDPS12B

Emery-Dreifuss muscular dystrophy is a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system. Flexion deformities of the elbows dating from early childhood, mild pectus excavatum, signs of cardiac involvement and absence of muscle pseudohypertrophy, involvement of the forearm muscles, and mental retardation distinguish the Emery-Dreifuss form (EDMD1) from the Becker form (OMIM ). Genetic Heterogeneity of Emery-Dreifuss Muscular DystrophyAutosomal dominant Emery-Dreifuss muscular dystrophy-2 (EDMD2 ), is caused by mutation in the lamin A/C gene (LMNA ); autosomal recessive EDMD3 (OMIM ) is also caused by mutation in the LMNA gene. Additional autosomal dominant forms include EDMD4 (OMIM ), caused by mutation in the SYNE1 gene (OMIM ), EDMD5 (OMIM ), caused by mutation in the SYNE2 gene (OMIM ), and EDMD7 (OMIM ), caused by mutation in the TMEM43 gene (OMIM ). A second X-linked form (EDMD6; see {300696}) is caused by mutation in the FHL1 gene (OMIM ).

EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED; EDMD1 Is also known as emd1|scapuloperoneal syndrome, x-linked, formerly|humeroperoneal neuromuscular disease, formerly|muscular dystrophy, tardive, dreifuss-emery type, with contractures

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED; EDMD1

DORFMAN-CHANARIN DISEASE Is also known as neutral lipid storage disease with ichthyosis|nlsdi

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about DORFMAN-CHANARIN DISEASE

Other less relevant matches:

Growth delay due to insulin-like growth factor I deficiency is characterised by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit.

GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR TYPE 1 DEFICIENCY Is also known as igf1 deficiency|primary insulin-like growth factor deficiency|growth retardation with sensorineural deafness and mental retardation|growth delay-deafness- intellectual disability syndrome|igf-1 deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR TYPE 1 DEFICIENCY

Medium match KALLMANN SYNDROME

Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs).

KALLMANN SYNDROME Is also known as congenital hypogonadotropic hypogonadism with anosmia|olfacto-genital pathological sequence

Related symptoms:

  • Seizures
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about KALLMANN SYNDROME

Medium match WAGR SYNDROME

WAGR syndrome (Wilms tumor - aniridia - genitourinary anomalies - intellectual disability mental retardation) is a rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor.

WAGR SYNDROME Is also known as del(11)(p13)|chromosome 11p13 deletion syndrome|wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome|monosomy 11p13|deletion 11p13|wagr syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about WAGR SYNDROME

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Muscular hypotonia
  • Ptosis
  • Gait disturbance


SOURCES: ORPHANET MENDELIAN

More info about X-LINKED EMERY-DREIFUSS MUSCULAR DYSTROPHY

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

SHORT STATURE-BRACHYDACTYLY-OBESITY-GLOBAL DEVELOPMENTAL DELAY SYNDROME Is also known as sbidds

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHORT STATURE-BRACHYDACTYLY-OBESITY-GLOBAL DEVELOPMENTAL DELAY SYNDROME

Emery-Dreifuss muscular dystrophy is characterized classically by the triad of weakness of the shoulder and pelvic girdle muscles, contractures of the elbows, neck, and Achilles tendon, and cardiac involvement, most commonly arrhythmias (summary by Jimenez-Escrig et al., 2012).For a discussion of genetic heterogeneity of EDMD, see {310300}.

AUTOSOMAL RECESSIVE EMERY-DREIFUSS MUSCULAR DYSTROPHY Is also known as edmd3

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Micrognathia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE EMERY-DREIFUSS MUSCULAR DYSTROPHY

Top 5 symptoms//phenotypes associated to Obesity and Ptosis

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Gait disturbance Uncommon - Between 30% and 50% cases
Muscular hypotonia Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Micrognathia Ichthyosis Hypertrophic cardiomyopathy Cryptorchidism Myopathy Atrioventricular block Muscular dystrophy Nystagmus Spinal rigidity Hyperlordosis Toe walking Myotonia Limb-girdle muscular dystrophy Joint stiffness Lipodystrophy Dilated cardiomyopathy EMG: myopathic abnormalities Back pain Sudden cardiac death Waddling gait Hypertriglyceridemia Elevated serum creatine phosphokinase Scapular winging Reduced tendon reflexes Elbow flexion contracture Kyphosis Arrhythmia Pectus excavatum Skeletal muscle atrophy Microcephaly Short stature Cardiomyopathy Global developmental delay Absent muscle fiber emerin Decreased cervical spine flexion due to contractures of posterior cervical muscles Type 1 muscle fiber atrophy Proximal upper limb amyotrophy Ventricular escape rhythm Proximal muscle weakness in upper limbs Proximal lower limb amyotrophy Increased LDL cholesterol concentration Supraventricular arrhythmia Proximal muscle weakness in lower limbs Achilles tendon contracture Sprengel anomaly Rimmed vacuoles

Rare Symptoms - Less than 30% cases

Hyperactivity Attention deficit hyperactivity disorder Behavioral abnormality Delayed skeletal maturation Motor delay Clinodactyly Abnormal facial shape Thin vermilion border Insulin resistance Generalized hypotonia Short neck Atrial fibrillation Palpitations Ankle contracture Limb-girdle muscle weakness Pelvic girdle muscle weakness Pelvic girdle muscle atrophy Restricted neck movement due to contractures Strabismus Cafe-au-lait spot High palate Delayed speech and language development Epicanthus Anteverted nares Cataract Long philtrum Deeply set eye Visual impairment Seizures Sensorineural hearing impairment Intrauterine growth retardation Flexion contracture Proximal muscle weakness Respiratory insufficiency due to muscle weakness Gowers sign Vocal cord paralysis Lumbar hyperlordosis Pes cavus Growth delay Upslanted palpebral fissure Hypertelorism Peroneal muscle weakness Progeroid facial appearance Weakness of facial musculature Restrictive ventilatory defect Generalized amyotrophy Diplopia Congenital muscular dystrophy Syndactyly Abnormal lung morphology Vertigo High forehead Short nose Lower limb muscle weakness Paresthesia Peroneal muscle atrophy Tip-toe gait Shoulder girdle muscle atrophy Gonadoblastoma Peters anomaly Abnormal vagina morphology Aplasia/Hypoplasia of the iris Streak ovary Displacement of the external urethral meatus Dysfunction of lateral corticospinal tracts Ventriculomegaly Limb-girdle muscle atrophy Hyporeflexia of lower limbs Limb muscle weakness Bradycardia Exertional dyspnea Increased connective tissue Proximal amyotrophy Distal lower limb amyotrophy Decreased HDL cholesterol concentration Reduced ejection fraction Sinus bradycardia Distal lower limb muscle weakness Shoulder girdle muscle weakness Macrotia Laryngomalacia Anxiety Astigmatism Wide nasal bridge Infra-orbital crease Frontal bossing Abnormality of the skeletal system Malar flattening Pseudohypoparathyroidism Retrognathia Severe global developmental delay Short foot Depressed nasal bridge Broad nasal tip Underdeveloped supraorbital ridges Delayed myelination Short metacarpal Delayed ability to walk Hemihypertrophy Short palpebral fissure Short metatarsal Brachydactyly Horizontal eyebrow Aggressive behavior Thick vermilion border Blepharophimosis Short philtrum Hypermetropia Hypertension Synophrys Frontal hirsutism Joint hypermobility Thick eyebrow Tapered finger Long toe Round face Broad-based gait Stereotypy Delayed gross motor development Easy fatigability Polycystic ovaries Impulsivity Cavum septum pellucidum Abnormality of the uterus Renal agenesis Renal neoplasm Single transverse palmar crease Abnormality of metabolism/homeostasis Clinodactyly of the 5th finger Severe short stature Prominent forehead Osteoporosis Hypogonadism Osteopenia Hypoglycemia Postnatal growth retardation Small for gestational age Delayed eruption of teeth Myopia Bilateral sensorineural hearing impairment Low posterior hairline Decreased body weight Low anterior hairline Radial deviation of finger Congenital sensorineural hearing impairment Truncal obesity Severe intrauterine growth retardation Abnormality of the mouth Severe postnatal growth retardation Intellectual disability, mild Failure to thrive Concave nasal ridge Exercise intolerance Cognitive impairment Fatigue Dysphagia Respiratory distress Acidosis Myalgia Ophthalmoplegia Congenital cataract Lactic acidosis Generalized muscle weakness External ophthalmoplegia Hearing impairment Ragged-red muscle fibers Dysphonia Mitochondrial myopathy Skeletal myopathy Paralysis Unsteady gait Heart block Progressive proximal muscle weakness Abnormality of the neck Atrial arrhythmia Short attention span Neonatal hyperbilirubinemia Hearing abnormality Glaucoma Abnormality of female internal genitalia Breast hypoplasia Bimanual synkinesia Dyspareunia Erectile abnormalities Hypothalamic gonadotropin-releasing hormone deficiency Neoplasm Renal insufficiency Microphthalmia Hypospadias Corneal opacity Hyposmia Leukemia Nephropathy Everted lower lip vermilion Microcornea Ambiguous genitalia Abnormality of the genital system Abnormality of the genitourinary system Nephroblastoma Aniridia Acute lymphoblastic leukemia Anterior hypopituitarism Decreased fertility Prelingual sensorineural hearing impairment Delayed puberty Small placenta Congenital bilateral ptosis Ataxia Cleft palate Dysarthria Tremor Abnormality of cardiovascular system morphology Micropenis Skeletal dysplasia Pes planus Paraplegia Abnormality of color vision Recurrent fractures Decreased testicular size Hypoplasia of penis Primary amenorrhea Gynecomastia Hypogonadotrophic hypogonadism Reduced bone mineral density Anosmia Reduced number of teeth Abnormality of the voice Permanent atrial fibrillation


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