Peripheral neuropathy, and Omphalocele

Diseases related with Peripheral neuropathy and Omphalocele

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


Top matches:

Low 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

Low match BECKWITH-WIEDEMANN SYNDROME; BWS


Beckwith-Wiedemann syndrome is a pediatric overgrowth disorder involving a predisposition to tumor development. The clinical presentation is highly variable; some cases lack the hallmark features of exomphalos, macroglossia, and gigantism as originally described by Beckwith (1969) and Wiedemann (1969) (summary by Weksberg et al., 2010).Mussa et al. (2016) provided a review of Beckwith-Wiedemann syndrome, including the wide spectrum of phenotypic manifestations, delineation of the frequencies of manifestations according to genotype, and discussion of the molecular and epigenetic defects that underlie the disorder.

BECKWITH-WIEDEMANN SYNDROME; BWS Is also known as emg syndrome|exomphalos-macroglossia-gigantism syndrome|wiedemann-beckwith syndrome|wbs

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME; BWS

Low match COMPLETE ANDROGEN INSENSITIVITY SYNDROME


Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS; see this term), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens.

COMPLETE ANDROGEN INSENSITIVITY SYNDROME Is also known as cais|complete androgen resistance syndrome

Related symptoms:

  • Cryptorchidism
  • Tremor
  • Inguinal hernia
  • Osteoporosis
  • Infertility


SOURCES: ORPHANET MENDELIAN

More info about COMPLETE ANDROGEN INSENSITIVITY SYNDROME

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Other less relevant matches:

Low match OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS SYNDROME


Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss.

OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS SYNDROME Is also known as hyperostosis generalisata with striations|robinow-unger syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS SYNDROME

Low match ISOLATED HEMIHYPERPLASIA


Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma (see this term) and hepoblastoma.

ISOLATED HEMIHYPERPLASIA Is also known as hemicorporal hypertrophy|hemi 3 syndrome|hemihypertrophy, isolated|hemihyperplasia|isolated hemihypertrophy|hhp

Related symptoms:

  • Seizures
  • Scoliosis
  • Neoplasm
  • Cryptorchidism
  • Hydrocephalus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ISOLATED HEMIHYPERPLASIA

Low match LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1


Congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, is a rare autosomal recessive disease characterized by a near absence of adipose tissue from birth or early infancy and severe insulin resistance. Other clinical and biologic features include acanthosis nigricans, muscular hypertrophy, hepatomegaly, altered glucose tolerance or diabetes mellitus, and hypertriglyceridemia (Garg, 2004). Genetic Heterogeneity of Congenital Generalized LipodystrophyCongenital generalized lipodystrophy type 2 (OMIM ) is caused by mutation in the BSCL2 gene (OMIM ). Congenital generalized lipodystrophy type 3 (OMIM ) is caused by mutation in the CAV1 gene (OMIM ). Congenital generalized lipodystrophy type 4 (OMIM ) is caused by mutation in the PTRF gene (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1 Is also known as berardinelli-seip congenital lipodystrophy, type 1|lipodystrophy, berardinelli-seip congenital, type 1|brunzell syndrome, agpat2-related|bscl1

Related symptoms:

  • Intellectual disability
  • Cognitive impairment
  • Hypertension
  • Peripheral neuropathy
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1

Low match ISOLATED TRIGONOCEPHALY


Isolated trigonocephaly is a nonsyndromic form of craniosynostosis characterized by the premature fusion of the metopic suture.

ISOLATED TRIGONOCEPHALY Is also known as non-syndromic metopic craniosynostosis

Related symptoms:

  • Wide nasal bridge
  • Synophrys
  • Hypotelorism
  • Omphalocele
  • Prominent supraorbital ridges


SOURCES: ORPHANET MENDELIAN

More info about ISOLATED TRIGONOCEPHALY

Low match CRANIORACHISCHISIS


Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervous system.

Related symptoms:

  • Anal atresia
  • Congenital diaphragmatic hernia
  • Omphalocele
  • Spina bifida
  • Anencephaly


SOURCES: ORPHANET MENDELIAN

More info about CRANIORACHISCHISIS

Low match MUCOLIPIDOSIS TYPE III ALPHA/BETA


Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients.

MUCOLIPIDOSIS TYPE III ALPHA/BETA Is also known as ml iii|mucolipidosis type 3 alpha/beta|pseudo-hurler polydystrophy|mucolipidosis iiia|ml iii alpha/beta|ml iiia|ml 3 alpha/beta|mucolipidosis iii

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about MUCOLIPIDOSIS TYPE III ALPHA/BETA

Low match CHONDRODYSPLASIA, GREBE TYPE


Grebe chondrodysplasia is an autosomal recessive disorder characterized by severe abnormality of the limbs and limb joints. The severity of limb shortening progresses in a proximal-distal gradient, with the hands and feet being most affected. The fingers and toes lack articulation and appear as skin appendages. In contrast, axial skeletal structures and the craniofacial skeleton are not affected. Heterozygous individuals are of average stature and have mild skeletal abnormalities (summary by Thomas et al., 1997).

CHONDRODYSPLASIA, GREBE TYPE Is also known as grebe chondrodysplasia|grebe dysplasia|achondrogenesis, brazilian|acromesomelic dysplasia, grebe type|amdg|achondrogenesis, type ii, formerly

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about CHONDRODYSPLASIA, GREBE TYPE

Top 5 symptoms//phenotypes associated to Peripheral neuropathy and Omphalocele

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Scoliosis Uncommon - Between 30% and 50% cases
Hernia Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Peripheral neuropathy and Omphalocele. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Pain Hearing impairment Inguinal hernia Cryptorchidism Umbilical hernia Intellectual disability, mild Mandibular prognathia Prominent forehead Hypothyroidism Abnormal heart morphology Abnormality of cardiovascular system morphology Polyhydramnios Neoplasm Conductive hearing impairment Macroglossia Edema Nephrolithiasis Nephroblastoma Seizures Abnormality of the skeletal system Abnormality of the dentition Flexion contracture Wide nasal bridge Cleft palate Generalized hypotonia Hypertelorism

Rare Symptoms - Less than 30% cases


Failure to thrive Large fontanelles Cardiomegaly Overgrowth Nevus Postaxial polydactyly Hydronephrosis Carcinoma Coarse facial features Polydactyly Micrognathia Accelerated skeletal maturation Atrial septal defect Cardiomyopathy Macrocephaly Hepatomegaly Hypertension Abnormal facial shape Impaired pain sensation Broad palm Abnormality of the outer ear Abnormal vertebral morphology Hypertriglyceridemia Growth delay Intrauterine growth retardation Prominent supraorbital ridges Spina bifida Constrictive median neuropathy Dysostosis multiplex Aortic regurgitation Hirsutism Hepatosplenomegaly Myelomeningocele Skeletal muscle hypertrophy Asymmetry of the thorax Broad ribs Fibular hypoplasia Visual field defect Specific learning disability Delayed eruption of teeth Anal atresia Craniosynostosis Severe short stature Frontal bossing Hydrocephalus Talipes equinovarus Cognitive impairment Osteoporosis Embryonal neoplasm Hepatoblastoma Hemihypertrophy Large hands Dilatation Paresthesia Abnormality of the kidney Clinodactyly of the 5th finger Cataract Midface retrusion Intellectual disability, moderate Cleft lip Ventriculomegaly Brachycephaly High forehead Nephropathy Gastroesophageal reflux Hyperactivity Short nose Low-set ears Anteverted nares Brachydactyly Clinodactyly Synophrys Posteriorly rotated ears Microtia Epicanthus Paralysis Hypoplasia of the corpus callosum Delayed speech and language development Hyperlordosis Facial asymmetry Straight clavicles Metaphyseal striations Osteopathia striata Malar flattening Neurofibromas Facial hyperostosis Multiple lipomas Paranasal sinus hypoplasia Bicuspid aortic valve Single transverse palmar crease Increased circulating cortisol level Elevated hepatic transaminase Tall stature Abnormality of the genital system Hypertrichosis Epidermal acanthosis Triangular face Hepatic steatosis Myopia Cirrhosis Autoimmunity Hypertrophic cardiomyopathy Behavioral abnormality Communicating hydrocephalus Macrotia Diabetes mellitus Hyperhidrosis Splenomegaly Congestive heart failure Hemiareflexia Hemifacial hypertrophy Leiomyosarcoma Asymmetric growth High iliac wings Pheochromocytoma Adrenocortical adenoma Broad clavicles Unilateral facial palsy Metaphyseal widening Partial agenesis of the corpus callosum Mixed hearing impairment Obesity Hypoplastic left heart Dysphasia Aphasia Delayed cranial suture closure Hyperostosis Flat occiput Overfolded helix Increased susceptibility to fractures Natal tooth Pyloric stenosis Nasal speech Mutism Cutaneous syndactyly Holoprosencephaly Spina bifida occulta Osteolysis Microretrognathia Narrow palate Spontaneous abortion Multicystic kidney dysplasia Thickened calvaria Submucous cleft hard palate Laryngeal web Delayed closure of the anterior fontanelle Craniofacial osteosclerosis Large iliac wings Laryngotracheomalacia Alobar holoprosencephaly Acanthosis nigricans Rough bone trabeculation Flexion contracture of toe Sclerosis of skull base Thoracolumbar kyphosis Otosclerosis Fibular aplasia White forelock Anal stenosis Facial paralysis Large forehead Thoracic dysplasia Ectopic anus Echolalia Misalignment of teeth Osteopetrosis Pierre-Robin sequence Ankylosis Tracheomalacia Abnormality of metabolism/homeostasis Insulin resistance Abnormality of lipid metabolism Hyperlipidemia Irregular carpal bones Talipes Genu valgum Pectus carinatum Jaundice Kyphosis Soft tissue swelling of interphalangeal joints Deficiency of N-acetylglucosamine-1-phosphotransferase Subperiosteal bone resorption Increased serum beta-hexosaminidase Increased serum iduronate sulfatase activity Hyperopic astigmatism Limb undergrowth Vascular tortuosity J-shaped sella turcica Retinal vascular tortuosity Shallow acetabular fossae Mucopolysacchariduria Carpal bone hypoplasia Juvenile rheumatoid arthritis Abnormality of the optic nerve Scleroderma Rheumatoid arthritis Short foot Postaxial hand polydactyly Opacification of the corneal stroma Prolonged neonatal jaundice Aplasia/Hypoplasia of metatarsal bones Acromesomelia Short digit Aplasia/Hypoplasia involving the metacarpal bones Pes valgus Aplasia/Hypoplasia of the patella Short 1st metacarpal Short femur Short tibia Short humerus Hallux valgus Abnormality of the ribs Metatarsus adductus Hypoplasia of the ulna Short middle phalanx of finger Heart murmur Hypoplasia of the radius Recurrent upper respiratory tract infections Disproportionate short-limb short stature Hydrops fetalis Short phalanx of finger Osteoarthritis Short long bone Short ribs Polycystic ovaries Abnormality of the ovary Reduced intrathoracic adipose tissue Insulin-resistant diabetes mellitus at puberty Prominent umbilicus Decreased serum leptin Congenital generalized lipodystrophy Decreased fertility in females Generalized lipodystrophy Acute pancreatitis Glioma Bone cyst Angina pectoris Labial hypertrophy Long foot Oligomenorrhea Joint contracture of the hand Insulin-resistant diabetes mellitus Lipoatrophy Polyphagia High pitched voice Clitoral hypertrophy Lipodystrophy Hyperinsulinemia Cystic angiomatosis of bone Generalized muscular appearance from birth Bone pain Arthritis Thickened skin Split hand Hip dysplasia Wide nose Retinal degeneration Astigmatism Corneal opacity Retinopathy Joint stiffness Respiratory tract infection Arthralgia Hypotelorism Osteopenia Cervical spina bifida Bifid sternum Craniorachischisis Sirenomelia Neural tube defect Spinal dysraphism Anencephaly Congenital diaphragmatic hernia Trigonocephaly Increased bone mineral density Cerebral calcification Aortic valve stenosis Strabismus Hypoglycemia Proptosis Respiratory failure Myoclonus Lethargy Respiratory distress Respiratory insufficiency Dry skin Oral cleft Sleep-wake inversion Anxiety Frequent temper tantrums Head-banging Abnormality of the forearm Midline brain calcifications Abnormal tracheobronchial morphology Morphological abnormality of the middle ear Abnormality of upper lip Pelvic kidney Premature atrial contractions Hyperacusis Aggressive behavior Wide mouth Recurrent aspiration pneumonia Nephrocalcinosis Hamartoma Tibial bowing Abnormality of the ear Prominent occiput Large for gestational age Ataxia Hypercalciuria Feeding difficulties Polycystic kidney dysplasia Growth abnormality Recurrent urinary tract infections Attention deficit hyperactivity disorder Pes planus EEG abnormality Dandy-Walker malformation Vesicoureteral reflux Deeply set eye Abdominal distention Postural instability Renal cyst Pulmonary hypoplasia Joint hypermobility Mood changes Excessive daytime sleepiness Congenital hypothyroidism Hypoplasia of dental enamel Sacral dimple Drooling Hypercholesterolemia Lissencephaly Increased body weight Hoarse voice Small hand Sinusitis Stereotypy Heterotopia Poor suck Pachygyria Sensorineural hearing impairment Broad-based gait Retinal detachment Decreased fetal movement Abnormality of the cardiovascular system Otitis media Esotropia Full cheeks Sleep disturbance Abnormality of the urinary system Self-injurious behavior Velopharyngeal insufficiency Short attention span Everted upper lip vermilion Recurrent ear infections Cavum septum pellucidum Abnormal renal morphology Deep palmar crease Abnormality of the larynx Broad face Thick upper lip vermilion Duodenal atresia Bruxism Chronic constipation Impulsivity Self-mutilation Overweight Drowsiness Protruding tongue Falls Short palm Abnormality of the immune system Progressive spastic paraplegia Abnormality of the thyroid gland Open bite Neuroblastoma Prominent metopic ridge Dental crowding Headache Dolichocephaly Broad forehead Apnea Camptodactyly Facial palsy Skeletal dysplasia Retrognathia Patent ductus arteriosus Pectus excavatum Syndactyly Hyporeflexia Long philtrum Myopathy Intellectual disability, severe Constipation Short neck Pes cavus Ventricular septal defect Downslanted palpebral fissures Depressed nasal bridge High palate Ophthalmoplegia Arachnodactyly Motor delay Wide intermamillary distance Aganglionic megacolon Abnormality of the metaphysis Open mouth Thick lower lip vermilion Lumbar hyperlordosis Coarctation of aorta Oligohydramnios Narrow forehead Microcornea Areflexia Abnormality of the skin Cleft upper lip Webbed neck Dental malocclusion Intestinal malrotation Bifid uvula Broad nasal tip High, narrow palate Thick vermilion border Flat face Thin vermilion border Long face Microcephaly Ptosis Aniridia Visceromegaly Flank pain Prune belly Renal cortical cysts Abdominal wall defect Teratoma Diaphragmatic eventration Unilateral cryptorchidism Rhabdomyosarcoma Abnormality of the tongue Pancreatic cysts Hypoplasia of the thymus Ganglioneuroma Gonadoblastoma Cerebral cortical atrophy Nonimmune hydrops fetalis Diastasis recti Ketosis Neonatal hypoglycemia Nevus flammeus Enlarged kidney Foot polydactyly Protuberant abdomen Adrenocortical carcinoma Posterior helix pit Aplasia/Hypoplasia of the fallopian tube Upslanted palpebral fissure Testicular gonadoblastoma Absent pubic hair Absent axillary hair Aplasia of the uterus Male pseudohermaphroditism Gynecomastia Primary amenorrhea Muscle cramps Sensory neuropathy Infertility Tremor Opsoclonus Congenital mesoblastic nephroma Pancreatoblastoma Fibrous hamartoma Pancreatic hyperplasia Overgrowth of external genitalia Adrenocortical cytomegaly Vitreomacular adhesion Nephroblastomatosis Thymus hyperplasia Abdominal mass Valgus hand deformity



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