Obesity, and Decreased fetal movement

Diseases related with Obesity and Decreased fetal movement

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


Top matches:

Medium 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

Medium match COHEN SYNDROME


Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity.

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about COHEN SYNDROME

Medium match SMITH-MAGENIS SYNDROME


Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay.

SMITH-MAGENIS SYNDROME Is also known as 17p11.2 microdeletion syndrome

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about SMITH-MAGENIS SYNDROME

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Other less relevant matches:

Medium match SMITH-MAGENIS SYNDROME; SMS


SMITH-MAGENIS SYNDROME; SMS Is also known as chromosome 17p11.2 deletion syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SMITH-MAGENIS SYNDROME; SMS

Medium match AUTOSOMAL DOMINANT CENTRONUCLEAR MYOPATHY


Autosomal dominant centronuclear myopathy (AD-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

AUTOSOMAL DOMINANT CENTRONUCLEAR MYOPATHY Is also known as myotubular myopathy, autosomal dominant|ad-cnm|myopathy, centronuclear, autosomal dominant

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT CENTRONUCLEAR MYOPATHY

Medium match PRADER-WILLI SYNDROME; PWS


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

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 COHEN SYNDROME; COH1


Cohen syndrome is an autosomal recessive multisystem disorder characterized by many clinical features, including facial dysmorphism, microcephaly, truncal obesity, intellectual disability, progressive retinopathy, and intermittent congenital neutropenia (summary by Duplomb et al., 2014).

COHEN SYNDROME; COH1 Is also known as chs1, formerly|pepper syndrome|coh|hypotonia, obesity, and prominent incisors

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about COHEN SYNDROME; COH1

Medium match EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE


Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility.

EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE Is also known as eds vi|eds6|ehlers-danlos syndrome, oculoscoliotic type|ehlers-danlos syndrome, ocular-scoliotic type|eds, oculoscoliotic type|eds6a, formerly|nevo syndrome|eds via|ehlers-danlos syndrome, type vi|ehlers-danlos syndrome, type via, formerly|eds, kyphoscoli

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia
  • Cryptorchidism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE

Medium match CEREBROFACIOTHORACIC DYSPLASIA


Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities.

CEREBROFACIOTHORACIC DYSPLASIA Is also known as pascual-castroviejo syndrome type 1|cerebrofaciothoracic dysplasia

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CEREBROFACIOTHORACIC DYSPLASIA

Top 5 symptoms//phenotypes associated to Obesity and Decreased fetal movement

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Scoliosis Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Obesity and Decreased fetal movement. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Motor delay

Uncommon Symptoms - Between 30% and 50% cases


Muscular hypotonia

Common Symptoms - More than 50% cases


Myopia

Uncommon Symptoms - Between 30% and 50% cases


Seizures

Common Symptoms - More than 50% cases


Strabismus

Uncommon Symptoms - Between 30% and 50% cases


Short stature

Common Symptoms - More than 50% cases


Micrognathia

Uncommon Symptoms - Between 30% and 50% cases


Neonatal hypotonia Growth delay Epicanthus Pes planus Depressed nasal bridge Hypertelorism Microcephaly Failure to thrive in infancy Increased body weight Open mouth Mandibular prognathia Ptosis Kyphosis Short nose Abnormal facial shape Intrauterine growth retardation Sleep disturbance Feeding difficulties in infancy Upslanted palpebral fissure Small hand Hyporeflexia Tapered finger Narrow forehead Esotropia Ventriculomegaly Talipes equinovarus Frontal bossing Delayed puberty Arachnodactyly Long eyelashes Hypothyroidism Thick eyebrow Clinodactyly of the 5th finger Gastroesophageal reflux High palate Failure to thrive Microcornea Edema Polyhydramnios Retinal detachment Anteverted nares Narrow palm Pectus excavatum Growth hormone deficiency Synophrys Feeding difficulties Clinodactyly Muscle weakness Neurological speech impairment Short philtrum Genu valgum Joint hyperflexibility Gingival overgrowth Hypoplasia of the maxilla Mitral valve prolapse Downslanted palpebral fissures Abnormality of the dentition Precocious puberty Low anterior hairline Brachycephaly Impaired pain sensation Pain Low-set ears Brachydactyly Attention deficit hyperactivity disorder Anxiety Behavioral abnormality Midface retrusion Single transverse palmar crease Wide nasal bridge Inguinal hernia Delayed speech and language development Cleft palate Posteriorly rotated ears Prominent forehead Intellectual disability, moderate Abnormality of the hip bone Areflexia Myopathy Sensorineural hearing impairment Respiratory distress Hernia Dolichocephaly Polyphagia Hyperlordosis Poor suck Joint hypermobility Retrognathia Talipes Wide mouth Tall stature Dilatation Hypogonadism Nystagmus Constipation Flexion contracture

Rare Symptoms - Less than 30% cases


Visual impairment Central hypotonia Abnormality of metabolism/homeostasis Pectus carinatum Macrocephaly Blindness Narrow nasal bridge Truncal obesity Macrotia Hypoplasia of the corpus callosum Kyphoscoliosis Malar flattening Joint laxity Postnatal growth retardation Retinopathy Highly arched eyebrow Bull's eye maculopathy High myopia Cataract Intracranial hemorrhage Hearing impairment Abnormal tracheobronchial morphology Hyperacusis Nasal speech Hyperactivity Pes cavus Osteoporosis Overweight Self-mutilation Respiratory tract infection Thin upper lip vermilion Osteopenia Diabetes mellitus Abnormality of the larynx Sacral dimple Congestive heart failure Intellectual disability, severe Large for gestational age Self-injurious behavior Spontaneous abortion Facial palsy Drowsiness Stroke Insulin resistance Oral cleft Generalized muscle weakness Cerebral cortical atrophy Unsteady gait Cleft lip Abnormality of the kidney Paralysis Falls Abnormality of the cardiovascular system Clumsiness Short palm Oligohydramnios Full cheeks Gastrointestinal hemorrhage Otitis media Sepsis Disproportionate tall stature Skeletal muscle hypertrophy Absent speech Misalignment of teeth Aplasia/Hypoplasia of the earlobes Wide intermamillary distance Short foot Sleep apnea Optic atrophy Weak cry Cubitus valgus Reduced number of teeth Ventricular septal defect Sandal gap Preauricular skin tag Abnormality of retinal pigmentation Smooth philtrum Microphthalmia Macrodontia Arthrogryposis multiplex congenita Apnea Prominent nasal bridge Neutropenia Hypoventilation Hyperinsulinemia High, narrow palate Iris coloboma Abnormality of skin pigmentation Hypoglycemia Impulsivity Finger syndactyly Micropenis Thick hair Autism Chorioretinal dystrophy EEG abnormality Tented upper lip vermilion Temperature instability Hypercholesterolemia Hoarse voice Hypertriglyceridemia Cleft upper lip Exotropia Conductive hearing impairment Deeply set eye Stereotypy Abnormality of cardiovascular system morphology Peripheral neuropathy Gait disturbance Cat cry Slender toe Short neck Respiratory insufficiency Tapetoretinal degeneration Progressive microcephaly Iris atrophy Intellectual disability, progressive Short metatarsal Venous thrombosis Recurrent aphthous stomatitis Bone spicule pigmentation of the retina Macular edema Furrowed tongue Recurrent skin infections Laryngomalacia Hiatus hernia Lumbar hyperlordosis Leukopenia Hyperhidrosis Radioulnar synostosis Cerebral hemorrhage Celiac disease Pigmentary retinopathy Depressivity Gingivitis Microglossia Thoracic scoliosis Abnormality of dental morphology Deep venous thrombosis Vocal cord paralysis Posterior subcapsular cataract Constriction of peripheral visual field Rheumatoid arthritis Peripheral visual field loss Facial hypotonia Subcapsular cataract Chronic otitis media Progressive visual loss Nephrolithiasis Abnormality of the skeletal system Cystinuria Severe failure to thrive Neonatal hypoglycemia Abnormality of mitochondrial metabolism Severe muscular hypotonia Hypocalcemia Hypergonadotropic hypogonadism Lactic acidosis Inability to walk Short palpebral fissure Acidosis Fatigue Acromicria Poor gross motor coordination Almond-shaped palpebral fissure Hypopnea Psychotic episodes Hypoplastic labia minora Cardiomyopathy Recurrent infections Convex nasal ridge Severe global developmental delay Aciduria Prominent nose Short metacarpal Coarse facial features Thick vermilion border Retinal dystrophy Retinal degeneration Astigmatism Small for gestational age Thrombocytopenia Granulocytopenia Camptodactyly Protruding ear Autistic behavior Arthritis Reduced visual acuity Rod-cone dystrophy Cerebellar hypoplasia Visual loss Nyctalopia Polyneuropathy Congenital neutropenia Hydronephrosis Abnormality of the ribs Postaxial hand polydactyly Renal agenesis Vesicoureteral reflux Wide nose Flat face Narrow chest Craniosynostosis Low-set, posteriorly rotated ears Patent ductus arteriosus Low posterior hairline Atrial septal defect Tremor Progressive congenital scoliosis Spontaneous rupture of the globe Molluscoid pseudotumors Arterial rupture Decreased pulmonary function Moderate myopia Wrist drop Cerebellar vermis hypoplasia Intention tremor Palmoplantar cutis laxa Beaking of vertebral bodies Bifid ribs Exodeviation Poliosis Hyperextensibility of the finger joints Rib fusion Broad philtrum Conical tooth Rectovaginal fistula Abnormal hair pattern Sprengel anomaly Sparse and thin eyebrow Shawl scrotum Vertebral fusion Vertebral segmentation defect Neurodevelopmental delay Supernumerary nipple Overlapping toe Coarse hair Sparse eyelashes Hemivertebrae Premature rupture of membranes Arterial dissection Hyperplasia of the maxilla Hypoplastic philtrum Joint contracture of the hand Dental crowding Thin skin Blue sclerae Overgrowth Abnormal bleeding Triangular mouth Bruising susceptibility Glaucoma Childhood-onset truncal obesity Recurrent pneumonia Macrodontia of permanent maxillary central incisor Prominent eyelashes Thick corpus callosum High-pitched cry Chorioretinal dysplasia Narrow philtrum Hemeralopia Cutis gyrata of scalp Laryngeal stenosis Spina bifida Hyperbilirubinemia Dural ectasia Aortic root aneurysm Keloids Thoracic kyphoscoliosis Lens luxation Subcutaneous hemorrhage Bladder diverticulum Generalized joint laxity Aortic dissection Atypical scarring of skin Soft skin Keratoconus Joint dislocation Slender finger Atrophic scars Heart murmur Aortic aneurysm Hyperextensible skin Corneal dystrophy Aortic regurgitation Torticollis Spina bifida occulta Central adrenal insufficiency Striae distensae Disseminated intravascular coagulation Recurrent aspiration pneumonia Head-banging Abnormality of the forearm Midline brain calcifications Morphological abnormality of the middle ear Abnormality of upper lip Pelvic kidney Premature atrial contractions Mood changes Excessive daytime sleepiness Sleep-wake inversion Velopharyngeal insufficiency Everted upper lip vermilion Recurrent ear infections Cavum septum pellucidum Abnormal renal morphology Deep palmar crease Broad face Thick upper lip vermilion Duodenal atresia Frequent temper tantrums Skeletal muscle atrophy Short attention span Respiratory insufficiency due to muscle weakness Generalized amyotrophy Mildly elevated creatine phosphokinase Multiple pterygia Calf muscle hypertrophy Ophthalmoparesis Pyloric stenosis Easy fatigability EMG: myopathic abnormalities Delayed gross motor development External ophthalmoplegia Dysphagia Intermittent hyperventilation Progressive muscle weakness Frequent falls Urinary incontinence Peripheral axonal neuropathy Ophthalmoplegia Myalgia Proximal muscle weakness Difficulty walking Bruxism Chronic constipation Thin ribs Toe syndactyly Hypoplasia of the zygomatic bone Abnormal eyelid morphology Aggressive behavior High forehead Aplasia/Hypoplasia of the tongue Abnormal heart morphology Joint stiffness Broad forehead Abnormal form of the vertebral bodies Lethargy Ataxia Corticospinal tract hypoplasia Aplasia/Hypoplasia of the corpus callosum Renal hypoplasia/aplasia Delayed eruption of primary teeth Large face Abnormal localization of kidney Taurodontia Abnormality of the ureter Microtia Dry skin Protruding tongue Abnormal vertebral morphology Broad palm Abnormality of the immune system Progressive spastic paraplegia Abnormality of the thyroid gland Open bite Abnormality of the urinary system Drooling Abnormality of the outer ear Lissencephaly Sinusitis Paresthesia Hypoplasia of dental enamel Heterotopia Pachygyria Omphalocele Broad-based gait Macroglossia Delayed eruption of teeth Nephropathy Abnormal eyelash morphology Muscle fibrillation Centrally nucleated skeletal muscle fibers Erysipelas Bicuspid aortic valve Glucose intolerance Inflammation of the large intestine Large hands Emotional lability Radial deviation of finger Adducted thumb Infantile muscular hypotonia Scrotal hypoplasia Narrow palpebral fissure Adrenal insufficiency Hypogonadotrophic hypogonadism Aortic valve stenosis Bradycardia Pterygium Primary amenorrhea Cutaneous photosensitivity Psychosis Type II diabetes mellitus Trigonocephaly Albinism Decreased muscle mass Specific learning disability Chromosome breakage Frontal upsweep of hair Clitoral hypoplasia Anteverted ears Poor fine motor coordination Abdominal obesity Cor pulmonale Generalized hypopigmentation Hypothermia Ocular albinism Hypoplasia of the fovea External genital hypoplasia Acrocyanosis Oligomenorrhea Abnormality of lipid metabolism Iris hypopigmentation Hypopigmentation of hair Pulmonary embolism Hand polydactyly Myeloid leukemia Microretrognathia Amenorrhea Hip dysplasia Malignant hyperthermia Sleepy facial expression Intellectual disability, mild Excessive salivation Vomiting Abnormality of the philtrum Fever Hypertension Cognitive impairment Neoplasm Abnormality of the foot musculature Hyperinsulinemic hypoglycemia Macrocephaly at birth Neonatal asphyxia Proximal muscle weakness in upper limbs Cavernous hemangioma Proximal muscle weakness in lower limbs Restrictive deficit on pulmonary function testing Exercise-induced myalgia Areflexia of lower limbs Type 1 muscle fiber predominance Syndactyly Recurrent respiratory infections Febrile seizures Limited elbow extension Akinesia Rocker bottom foot Hypopigmentation of the skin Downturned corners of mouth Polymicrogyria Infertility Carious teeth Hypermetropia Pruritus Leukemia Fetal akinesia sequence Short humerus Delayed ability to walk Abnormality of the pinna Abnormality of the nervous system Photophobia Hyperventilation Narrow mouth Weight loss Respiratory failure Microdontia of primary teeth



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