Obesity, and Bulbous nose

Diseases related with Obesity and Bulbous nose

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


Top matches:

High match X-LINKED INTELLECTUAL DISABILITY, SHASHI TYPE


X-linked intellectual disability, Shashi type is characterised by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localised to the q21.3-q27 region of the X chromosome.

X-LINKED INTELLECTUAL DISABILITY, SHASHI TYPE Is also known as shashi x-linked mental retardation syndrome|syndromic x-linked intellectual disability type 11|smrxs|mental retardation, x-linked, shashi type

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Delayed speech and language development


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, SHASHI TYPE

High match XQ27.3Q28 DUPLICATION SYNDROME


Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.

XQ27.3Q28 DUPLICATION SYNDROME Is also known as trisomy xq27.3q28|dup(x)(q27.3q28)|xq27.3-q28 microduplication syndrome|trisomy xq27.3-q28

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about XQ27.3Q28 DUPLICATION SYNDROME

High match 6Q16 DELETION SYNDROME


Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay.

6Q16 DELETION SYNDROME Is also known as del(6)(q16)|prader-willi-like syndrome due to deletion 6q16|monosomy 6q16

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about 6Q16 DELETION SYNDROME

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Other less relevant matches:

High match 15Q13.3 MICRODELETION SYNDROME


15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features.

15Q13.3 MICRODELETION SYNDROME Is also known as del(15)(q13.3)|chromosome 15q13.3 microdeletion syndrome|monosomy 15q13.3

Related symptoms:

  • Seizures
  • Schizophrenia
  • Bipolar affective disorder


SOURCES: MESH MENDELIAN

More info about 15Q13.3 MICRODELETION SYNDROME

High match MONOSOMY 22Q13


Monosomy 22q13 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features.

MONOSOMY 22Q13 Is also known as 22q13 deletion|phelan-mcdermid syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about MONOSOMY 22Q13

High match CORNELIA DE LANGE SYNDROME 5; CDLS5


Cornelia de Lange syndrome is a clinically heterogeneous developmental disorder characterized by malformations affecting multiple systems. Affected individuals have dysmorphic facial features, cleft palate, distal limb defects, growth retardation, and developmental delay. About 60% of patients have mutations in the NIPBL gene (OMIM ) on chromosome 5p13 (CDLS1 ), and about 4 to 6% of patients have mutations in the X-linked SMC1A gene (OMIM ) (CDLS2 ) (summary by Musio et al., 2006, Hoppman-Chaney et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see {122470}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 5; CDLS5

High match X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE


X-linked intellectual disability, Cabezas type is characterised by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localised to the q24-q25 region of the X chromosome.

X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE Is also known as cabezas syndrome|mrss|mrxs15|mental retardation, x-linked, with short stature|mental retardation, x-linked, with short stature, hypogonadism, and abnormal gait|mental retardation, x-linked, syndromic 15

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE

High match PHELAN-MCDERMID SYNDROME; PHMDS


Phelan-McDermid syndrome is a developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behavior (see {209850}), and minor dysmorphic features (Precht et al., 1998; Prasad et al., 2000; Durand et al., 2007).

PHELAN-MCDERMID SYNDROME; PHMDS Is also known as chromosome 22q13.3 deletion syndrome|telomeric 22q13 monosomy syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PHELAN-MCDERMID SYNDROME; PHMDS

High match VELOCARDIOFACIAL SYNDROME


VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

High match DIGEORGE SYNDROME; DGS


DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.

DIGEORGE SYNDROME; DGS Is also known as hypoplasia of thymus and parathyroids|chromosome 22q11.2 deletion syndrome|third and fourth pharyngeal pouch syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DIGEORGE SYNDROME; DGS

Top 5 symptoms//phenotypes associated to Obesity and Bulbous nose

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Delayed speech and language development Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Short stature

Uncommon Symptoms - Between 30% and 50% cases


High palate

Common Symptoms - More than 50% cases


Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape Generalized hypotonia Muscular hypotonia Clinodactyly of the 5th finger Immunodeficiency Hypertelorism Ptosis Macrocephaly Short foot Hyperactivity Umbilical hernia Behavioral abnormality Strabismus Renal dysplasia Epicanthus Blepharophimosis Deeply set eye Abnormality of the pinna Specific learning disability Macrotia Short neck Cognitive impairment Full cheeks Recurrent infections Retrognathia Absent speech Inguinal hernia Abnormality of cardiovascular system morphology EEG abnormality Autistic behavior Atrial septal defect Bipolar affective disorder Schizophrenia Long eyelashes Ventriculomegaly Feeding difficulties Cleft palate Scoliosis Micrognathia Gastroesophageal reflux Hypoplasia of the corpus callosum Hydronephrosis Vesicoureteral reflux Aggressive behavior Large hands Ventricular septal defect Gynecomastia Palpebral edema Small hand Prominent supraorbital ridges Narrow palpebral fissure Neonatal hypotonia Hypogonadism Intellectual disability, moderate Truncal obesity Cryptorchidism Growth delay Patent ductus arteriosus Decreased testicular size

Rare Symptoms - Less than 30% cases


Right aortic arch Hemolytic anemia Perimembranous ventricular septal defect Impaired T cell function Interrupted aortic arch Short philtrum Autoimmunity Arthritis Graves disease Bicuspid aortic valve Duodenal stenosis Thrombocytopenia Hydrocephalus Motor delay Arteria lusoria Aplasia of the thymus Conotruncal defect Gait disturbance Intellectual disability, severe Seborrheic dermatitis Hypertonia Abnormal heart morphology Posteriorly rotated ears Hypospadias Hypothyroidism Retinal vascular tortuosity Aplasia of the uterus Bifid uvula Juvenile rheumatoid arthritis Low posterior hairline Purpura Anxiety Arnold-Chiari malformation Nasal speech Hypocalcemia Spina bifida Primary amenorrhea Sacral meningocele Cholelithiasis Rheumatoid arthritis Mood swings Psoriasiform dermatitis Unilateral renal agenesis Acne High, narrow palate Polymicrogyria Hypoparathyroidism Myelomeningocele Truncus arteriosus Multicystic kidney dysplasia Broad-based gait Chorea Meningocele Vitiligo Tetralogy of Fallot Posterior embryotoxon Autoimmune thrombocytopenia Renal agenesis Amenorrhea Autoimmune hemolytic anemia Inflammation of the large intestine Right aortic arch with mirror image branching Synophrys Fever Sleep disturbance Impaired pain sensation Hypoplastic toenails Recurrent skin infections Sacral dimple Brachycephaly Pointed chin Lymphedema Intrauterine growth retardation Intellectual disability, mild Hypohidrosis Dental crowding Dental malocclusion Thin vermilion border Bruxism Thick eyebrow Nausea and vomiting Hypermetropia Dolichocephaly Agenesis of corpus callosum Malar flattening Wide nasal bridge Abdominal obesity Low-set ears Myopia Short palm Prominent nasal bridge Arachnoid cyst Accelerated skeletal maturation Cerebellar cortical atrophy Telecanthus Coarse facial features Thick lower lip vermilion Anemia Toe syndactyly Microtia Periorbital fullness Cleft lip Autism Micropenis Depressed nasal bridge Long philtrum Abnormality of the dentition Hair-pulling Recurrent pyelonephritis Parathyroid hypoplasia Open mouth Hallucinations Hypoplasia of the thymus Anterior segment developmental abnormality Tetany Depressivity Alcoholism Holoprosencephaly Sclerocornea Hernia Cerebellar atrophy Parathyroid agenesis Femoral hernia Psychosis Perisylvian polymicrogyria Dementia Congenital cataract Decreased circulating parathyroid hormone level Abnormality of the middle ear Peripheral demyelination Esophoria Accommodative esotropia Dysmetria Anal atresia Abnormality of the thymus Mental deterioration Underdeveloped nasal alae Pulmonic stenosis Vascular tortuosity Conductive hearing impairment Neoplasm Abnormality of the hand Craniosynostosis Paranoia Astigmatism Giant platelets Velopharyngeal insufficiency Generalized tonic-clonic seizures Attention deficit hyperactivity disorder Psychotic episodes Abnormality of the kidney Pulmonary artery atresia Narrow mouth Central nervous system degeneration Vascular ring Perineal fistula Congenital conductive hearing impairment Microphthalmia Flexion contracture Unilateral lung agenesis Platybasia Abnormality of the endocrine system Exotropia Hypoplasia of the brainstem Dysdiadochokinesis Amblyopia Broad thumb Short palpebral fissure Apathy Obsessive-compulsive behavior Coarctation of aorta Iris coloboma Myopathic facies Echolalia Abnormality of the ear Unilateral primary pulmonary dysgenesis Axonal loss Submucous cleft hard palate Anal stenosis Hearing abnormality Delusions Pierre-Robin sequence Basal ganglia calcification Abnormality of the musculature Cataract Hyperhidrosis Proximal placement of thumb Cutis marmorata Delayed cranial suture closure Limited elbow extension Nevus flammeus Happy demeanor Brachydactyly Skeletal muscle atrophy Downslanted palpebral fissures Tremor Kyphosis Pes cavus Gait ataxia Low anterior hairline Mandibular prognathia High forehead Pes planus Joint laxity Wide mouth Camptodactyly of finger Neurological speech impairment Delayed puberty Joint hyperflexibility Joint hypermobility Macroglossia Prominent nose Memory impairment Widely spaced teeth Nevus Interphalangeal joint contracture of finger Primary testicular failure Sensorineural hearing impairment Everted lower lip vermilion Bilateral sensorineural hearing impairment Macroorchidism Failure to thrive Delayed skeletal maturation Small for gestational age Hypergonadotropic hypogonadism Premature ovarian insufficiency High pitched voice Sparse body hair Increased circulating gonadotropin level Decreased serum testosterone level Nystagmus Broad nasal tip Tapered finger Round face Microretrognathia Polyphagia Narrow nose Misalignment of teeth Anteverted nares Feeding difficulties in infancy Postnatal growth retardation Hirsutism Wide nose Downturned corners of mouth Highly arched eyebrow Hypoplasia of penis Intention tremor Fulminant hepatic failure Poor head control Unsteady gait Hepatic failure Thick vermilion border Renal cyst Hepatitis Abnormality of the genital system Nephrolithiasis Chronic diarrhea Tall stature Cerebral visual impairment Short chin Abnormality of the outer ear Increased intracranial pressure Recurrent upper respiratory tract infections Protruding ear Polycystic kidney dysplasia 2-3 toe syndactyly Cellulitis Weak cry Poor eye contact Abnormality of the periventricular white matter Heat intolerance Concave nasal ridge Delayed CNS myelination Episodic vomiting Toenail dysplasia Hyperorality Tongue thrusting Facial asymmetry Irritability Short thumb Down-sloping shoulders Sandal gap Acanthosis nigricans Relative macrocephaly Cachexia Cubitus valgus Open bite Cortical dysplasia Cortical gyral simplification Cerebellar vermis atrophy Biparietal narrowing Striae distensae Restlessness Scaphocephaly Distal lower limb amyotrophy Constipation Abnormal hair pattern Tics Panhypopituitarism Abnormality of earlobe Small earlobe Moderately short stature Abnormality of toe Pain Vomiting Diarrhea Headache Midface retrusion Hyporeflexia Type I truncus arteriosus



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