Obesity, and Toe syndactyly

Diseases related with Obesity and Toe syndactyly

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


Top matches:

Low match BARDET-BIEDL SYNDROME 4; BBS4


BBS4 is a rare multisystemic disorder characterized primarily by retinal dystrophy, obesity, polydactyly, and renal dysfunction that accounts for less than 3% of BBS (Katsanis et al., 2002). Anosmia has been described in patients with BBS4 (Iannaccone et al., 2005), as well as polydactyly confined to the hands (Carmi et al., 1995).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Cryptorchidism
  • Cognitive impairment
  • Brachydactyly
  • Blindness


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 4; BBS4

Low 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

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Other less relevant matches:

Low match CARPENTER SYNDROME


Carpenter syndrome is a subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders.

CARPENTER SYNDROME Is also known as acrocephalopolysyndactyly type 2|acps2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARPENTER SYNDROME

Low match BARTSOCAS-PAPAS SYNDROME


Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome (see this term) characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported.

BARTSOCAS-PAPAS SYNDROME Is also known as pterygium, popliteal, lethal type|autosomal recessive popliteal pterygium syndrome|bps|lethal popliteal pterygium syndrome|multiple pterygium syndrome, aslan type|bartsocas-papas syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about BARTSOCAS-PAPAS SYNDROME

Low 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

Low 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

Low match 2Q37 MICRODELETION SYNDROME


Deletion 2q37 or monosomy 2q37 is a chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism.

2Q37 MICRODELETION SYNDROME Is also known as albright hereditary osteodystrophy-like syndrome|del(2)(q37)|monosomy 2q37-qter|brachydactyly-intellectual disability syndrome|albright hereditary osteodystrophy type 3|brachydactyly-mental retardation syndrome|bdmr|deletion 2q37-qter|deletion 2q37

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about 2Q37 MICRODELETION SYNDROME

Low match 15Q24 MICRODELETION SYNDROME


15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies.

15Q24 MICRODELETION SYNDROME Is also known as monosomy 15q24|del(15)(q24)

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about 15Q24 MICRODELETION SYNDROME

Low 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

Top 5 symptoms//phenotypes associated to Obesity and Toe syndactyly

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Microcephaly Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Brachydactyly Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases


Seizures

Common Symptoms - More than 50% cases


Cryptorchidism

Uncommon Symptoms - Between 30% and 50% cases


Ventriculomegaly

Common Symptoms - More than 50% cases


Depressed nasal bridge

Uncommon Symptoms - Between 30% and 50% cases


Abnormality of cardiovascular system morphology Generalized hypotonia High palate Muscular hypotonia Abnormal facial shape Anteverted nares Short neck Clinodactyly of the 5th finger Deeply set eye Micrognathia Upslanted palpebral fissure Brachycephaly Micropenis Midface retrusion Hyperactivity Aggressive behavior Hearing impairment Growth delay Feeding difficulties in infancy Cognitive impairment Pes planus Epicanthus Highly arched eyebrow Hypogonadism Small hand Wide nasal bridge Scoliosis Delayed speech and language development Sleep disturbance Frontal bossing Joint hyperflexibility Hernia Truncal obesity Umbilical hernia Sparse and thin eyebrow EEG abnormality Macrocephaly Blepharophimosis Abnormality of the genital system Short nose Intrauterine growth retardation Short thumb Narrow palpebral fissure Gait disturbance Protruding ear Behavioral abnormality Immunodeficiency Broad-based gait Inguinal hernia Wide intermamillary distance Finger syndactyly Short palm Underdeveloped nasal alae Synophrys Gastroesophageal reflux Cleft palate Thin vermilion border Bulbous nose Autism Wide nose Short foot Hyporeflexia Strabismus Long philtrum Autistic behavior Clinodactyly Attention deficit hyperactivity disorder Feeding difficulties Syndactyly Abnormality of the dentition

Rare Symptoms - Less than 30% cases


Open mouth Motor delay Stereotypy Hypoplasia of the corpus callosum Intellectual disability, severe Hoarse voice Hypermetropia Downslanted palpebral fissures Sandal gap Facial asymmetry High, narrow palate Pointed chin Abnormality of the outer ear Hypoplastic toenails Cupped ear Renal hypoplasia/aplasia Sacral dimple Malar flattening Pain Self-injurious behavior Cafe-au-lait spot Short phalanx of finger Impaired pain sensation Small nail Hypertonia Pes cavus Broad forehead Camptodactyly of finger Thick lower lip vermilion Interphalangeal joint contracture of finger Cleft upper lip Recurrent infections Mild short stature Polymicrogyria Short chin Multicystic kidney dysplasia Delayed puberty Neurological speech impairment Short philtrum Bilateral single transverse palmar creases Congenital diaphragmatic hernia Absent speech Abnormality of the pinna Intellectual disability, moderate Joint laxity Constipation Conductive hearing impairment Anxiety Coarse facial features High forehead Thick vermilion border Mandibular prognathia Macrotia Large hands Hypospadias Intellectual disability, mild Sparse scalp hair Decreased testicular size Postnatal growth retardation External genital hypoplasia Bilateral cryptorchidism Myopia Retrognathia Cleft lip Widely spaced teeth Supernumerary nipple Proximal placement of thumb Prominent nasal bridge Gynecomastia Downturned corners of mouth Broad nasal tip Patent ductus arteriosus Long eyelashes Prominent supraorbital ridges Ptosis Microphthalmia Polydactyly Atrial septal defect Talipes equinovarus Narrow mouth Abnormality of the skeletal system Low-set ears Renal cyst Sensorineural hearing impairment Pain insensitivity Low hanging columella Renal neoplasm Broad face Subvalvular aortic stenosis Broad columella Abnormal aortic morphology Dilatation Self-biting Bruxism Weak cry Poor eye contact Polyhydramnios Nystagmus Palpebral edema Overweight Abnormality of the periventricular white matter Posteriorly rotated ears Arachnoid cyst Long palm Heat intolerance Tracheomalacia Episodic vomiting Abnormal tracheobronchial morphology Hair-pulling Fulminant hepatic failure Corticospinal tract hypoplasia Neoplasm Hydrocephalus Tongue thrusting Arrhythmia Prominent forehead Hyperorality Cerebellar cortical atrophy Toenail dysplasia Thin upper lip vermilion Sparse hair Obsessive-compulsive behavior Scarring Periorbital fullness Round face Delayed CNS myelination Short metacarpal Eczema Narrow forehead Concave nasal ridge Short toe Aortic valve stenosis Laryngomalacia Short metatarsal Pyloric stenosis Nephroblastoma Cellulitis Recurrent upper respiratory tract infections 2-3 toe syndactyly High anterior hairline Thick hair Neonatal hypotonia Intestinal atresia Microphallus Overlapping fingers Thick upper lip vermilion Insomnia Agenesis of corpus callosum Abnormality of digit Slender finger Radial deviation of finger Abnormality of the thorax Abnormality of the voice Nasal speech Hydronephrosis Wide nasal base Abnormality of nervous system morphology Irritability Toe clinodactyly Large fleshy ears Dysplastic corpus callosum Gastrointestinal atresia Anisocoria Medial flaring of the eyebrow Flared nostrils Delayed eruption of primary teeth Unilateral cryptorchidism Deep plantar creases Abnormality of the proximal phalanx of the thumb Ventricular septal defect Thick nasal alae Vomiting Diarrhea Headache Microretrognathia Narrow face Polycystic kidney dysplasia Hypohidrosis Renal dysplasia Nephrolithiasis Chronic diarrhea Low-set, posteriorly rotated ears Tall stature Dental crowding Lymphedema Developmental regression Cerebral visual impairment Muscular hypotonia of the trunk Accelerated skeletal maturation Increased intracranial pressure Poor head control Recurrent skin infections Conspicuously happy disposition Hepatitis Dental malocclusion Fine hair Arachnodactyly Growth hormone deficiency Delayed myelination Tapered finger Single transverse palmar crease Dolichocephaly Iris coloboma Long face Smooth philtrum Small for gestational age Nausea and vomiting Unsteady gait Severe global developmental delay Hepatic failure Thick eyebrow Full cheeks Vesicoureteral reflux Hyperacusis Wide mouth Large face Diaphragmatic eventration Corneal opacity Alopecia Flexion contracture Abnormal reproductive system morphology Aplasia of the middle phalanx of the hand Narrow naris Abnormal cornea morphology Talipes Oxycephaly Cloverleaf skull Preaxial foot polydactyly Polysplenia Abnormality of the skull Turricephaly Arthrogryposis multiplex congenita Confusion Hypoplastic nipples Absent eyebrow Facial cleft Multiple cafe-au-lait spots Absent thumb Aplasia/Hypoplasia of the eyebrow Anonychia Mask-like facies Ectropion Oral cleft Pterygium Opacification of the corneal stroma Omphalocele Short palpebral fissure Renal hypoplasia Ambiguous genitalia Hypoplasia of the maxilla Shawl scrotum Cutaneous finger syndactyly Anal stenosis Microtia Limited elbow extension Delayed cranial suture closure Cutis marmorata Low anterior hairline Nevus Hirsutism Telecanthus Happy demeanor Anosmia Retinal dystrophy Retinal degeneration Nyctalopia Reduced visual acuity Rod-cone dystrophy Blindness Nevus flammeus Pectus excavatum Transposition of the great arteries Situs inversus totalis Dextrocardia Trigonocephaly Preaxial polydactyly Cutis laxa Coxa vara Narrow palate Broad thumb Kyphoscoliosis Postaxial hand polydactyly Webbed neck Postaxial polydactyly Genu valgum Pectus carinatum Craniosynostosis Camptodactyly Aplasia cutis congenita Median cleft lip Abnormal localization of kidney Abnormal hair pattern Mood swings Small earlobe Abnormality of earlobe Abdominal obesity Panhypopituitarism Tics Distal lower limb amyotrophy Abnormality of toe Down-sloping shoulders Scaphocephaly Restlessness Striae distensae Biparietal narrowing Cerebellar vermis atrophy Abnormality of the musculature Moderately short stature Peripheral neuropathy Cortical dysplasia Tented upper lip vermilion Taurodontia Abnormality of the ureter Chronic otitis media Hand polydactyly Failure to thrive in infancy Precocious puberty Aplasia/Hypoplasia of the corpus callosum Hypothyroidism Hypercholesterolemia Abnormal form of the vertebral bodies Hypertriglyceridemia Decreased fetal movement Microcornea Retinal detachment Joint stiffness Cortical gyral simplification Open bite Absent eyelashes Sparse or absent eyelashes Unilateral renal hypoplasia Hypoplastic male external genitalia Synostosis of joints Aplasia/Hypoplasia of the distal phalanges of the toes Popliteal pterygium Ankyloblepharon Short sternum Oral synechia Alopecia totalis Labial hypoplasia Prominent superficial veins Eyelid coloboma Hypoplastic scapulae Hypoplastic labia majora Skin tags Adactyly Sparse lower eyelashes Cubitus valgus Prominent nose Cachexia Relative macrocephaly Acanthosis nigricans Intention tremor Hypoplasia of penis Memory impairment Macroglossia Bilateral cleft palate Joint hypermobility Gait ataxia Hyperhidrosis Kyphosis Tremor Skeletal muscle atrophy Symblepharon Recurrent pyelonephritis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Dysarthria and Irritability, related diseases and genetic alterations Intellectual disability, severe and Postaxial polydactyly, related diseases and genetic alterations Myopathy and Muscular hypotonia of the trunk, related diseases and genetic alterations Low-set ears and Lymphopenia, related diseases and genetic alterations

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