Obesity, and Small nail

Diseases related with Obesity and Small nail

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


Top matches:

Medium match LETHAL POLYMALFORMATIVE SYNDROME, BOISSEL TYPE


Lethal polymalformative syndrome, Boissel type is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by failure to thrive, severe developmental delay, severe postanatal microcephaly, frequent congenital cardiac defects and characteristic facial dysmorphysm (including coarse face with anteverted nostrils, thin vermillion, prominent alveolar ridge and retro- or micrognatia). Additional common features include neurologic abnormalities (hyper-/hypotonia, sensorineural deafness, hydrocephalus, cerebral atrophy, seizures), as well as brachydactyly, cutis marmorata and genital anomalies.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LETHAL POLYMALFORMATIVE SYNDROME, BOISSEL TYPE

Medium match SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2; SGBS2


An extremely rare and severe early-lethal form of Simpson-Golabi-Behmel syndrome. The disease is an overgrowth-multiple anomalies syndrome with characteristics of hydrops fetalis, macrocephaly, facial dysmorphism, short neck, redundant skin, skeletal defects (involving upper and lower limbs), hypoplastic nails, gastrointestinal and genitourinary anomalies, hypotonia and neurologic impairment. Severe intellectual disability, obesity and infections (pneumonia, sepsis) have been reported.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2; SGBS2

Medium 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

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Other less relevant matches:

Medium 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

Medium match ULNAR-MAMMARY SYNDROME


Ulnar-mammary syndrome (UMS) is a rare developmental disorder characterized by ulnar defects, mammary and apocrine gland hypoplasia and genital anomalies. Delayed puberty dental anomalies, short stature and obesity have also been described.

ULNAR-MAMMARY SYNDROME Is also known as schinzel syndrome|ums|pallister ulnar-mammary syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Hypertelorism
  • Cryptorchidism
  • Ptosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ULNAR-MAMMARY SYNDROME

Medium match NON-ACQUIRED COMBINED PITUITARY HORMONE DEFICIENCY-SENSORINEURAL HEARING LOSS-SPINE ABNORMALITIES SYNDROME


Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated.

NON-ACQUIRED COMBINED PITUITARY HORMONE DEFICIENCY-SENSORINEURAL HEARING LOSS-SPINE ABNORMALITIES SYNDROME Is also known as deafness, sensorineural, with pituitary dwarfism|non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome|pituitary hormone deficiency, combined, with rigid cervical spine

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about NON-ACQUIRED COMBINED PITUITARY HORMONE DEFICIENCY-SENSORINEURAL HEARING LOSS-SPINE ABNORMALITIES SYNDROME

Medium 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

Medium 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

Medium match MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2


Multiple congenital anomalies-hypotonia-seizures syndrome type 2 is a rare, genetic, lethal, neurometabolic malformation syndrome characterized by multiple, variable, congenital cardiac (systolic murmur, atrial septal defect), urinary (duplicated collecting system, vesicoureteral reflux) and central nervous system (thin corpus callosum, cerebellar hypoplasia) malformations associated with neonatal hypotonia, early-onset epileptic encephalopathy, and myoclonic seizures. Craniofacial dysmorphism (prominent occiput, enlarged fontanel, fused metopic suture, upslanted palpebral fissures, overfolded helix, depressed nasal bridge, anteverted nose, malar flattening, microstomy with downturned corners, Pierre-Robin sequence, high arched palate, short neck) and other manifestions (joint contractures, hyperreflexia, dysplastic nails, developmental delay) are also observed.

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2 Is also known as epileptic encephalopathy, early infantile, 20|gpibd4|mcahs type 2|glycosylphosphatidylinositol biosynthesis defect 4|eiee20

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2

Low match ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE


ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE Is also known as hay-wells syndrome|aec syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Failure to thrive
  • Cleft palate
  • Pain


SOURCES: OMIM MESH MENDELIAN

More info about ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE

Top 5 symptoms//phenotypes associated to Obesity and Small nail

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Micropenis Common - Between 50% and 80% cases
Short neck Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Hypertelorism Short stature Seizures Wide nasal bridge Microcephaly Growth delay Cleft palate Patent ductus arteriosus High palate Epicanthus Macrocephaly Abnormal facial shape Short nose Hypoplastic toenails Delayed speech and language development Wide nose Cryptorchidism Abnormality of the genital system Ventricular septal defect Anteverted nares Narrow mouth Long philtrum Strabismus Muscular hypotonia Feeding difficulties Multicystic kidney dysplasia Ptosis Neonatal hypotonia Malar flattening Dolichocephaly Deeply set eye Immunodeficiency Inguinal hernia Macrotia Autistic behavior Hyperactivity Posteriorly rotated ears Toe syndactyly Hypermetropia Growth hormone deficiency Pointed chin Hernia Hypoplasia of the corpus callosum Coarse facial features Abnormality of the dentition Umbilical hernia Intrauterine growth retardation Wide mouth Sacral dimple Hypohidrosis Vesicoureteral reflux Delayed myelination Sleep disturbance Micrognathia Failure to thrive Upslanted palpebral fissure Widely spaced teeth Absent speech

Rare Symptoms - Less than 30% cases


Palpebral edema Recurrent infections Cleft lip Abnormality of cardiovascular system morphology Arachnoid cyst Alopecia Bruxism Cerebellar cortical atrophy Hair-pulling Recurrent pyelonephritis Flexion contracture Microphthalmia High anterior hairline Syndactyly Absent eyelashes Intellectual disability, mild Cerebral visual impairment Camptodactyly of finger Microdontia Short distal phalanx of finger Tall stature Hypodontia Sepsis Interphalangeal joint contracture of finger Inflammatory abnormality of the skin Split hand Anterior pituitary hypoplasia Wide nasal base 2-3 toe syndactyly Gonadotropin deficiency Heat intolerance Camptodactyly Hepatic failure Ventriculomegaly Cafe-au-lait spot Depressed nasal bridge Cleft upper lip Oral cleft Hypoplasia of the maxilla Underdeveloped nasal alae Renal hypoplasia Short thumb Ankyloblepharon Cupped ear Anonychia Increased body weight Pain Anal stenosis Hypoplastic scapulae Atrial septal defect Impaired pain sensation Recurrent skin infections Large hands Single transverse palmar crease Recurrent upper respiratory tract infections Muscular hypotonia of the trunk Brachydactyly High, narrow palate Wide intermamillary distance Hypertonia Retrognathia Tapered finger Severe global developmental delay Thin vermilion border Developmental regression Radial deviation of finger Hoarse voice Pneumonia Clinodactyly Intellectual disability, severe Talipes equinovarus Short chin Facial asymmetry Low-set ears Abnormality of the outer ear Periorbital fullness Deep philtrum Fine hair Protruding ear Bulbous nose Thick eyebrow Nausea and vomiting Sensorineural hearing impairment Hydronephrosis Gastroesophageal reflux Agenesis of corpus callosum Clinodactyly of the 5th finger Hypospadias Full cheeks Dental malocclusion Renal dysplasia Long eyelashes Autism Polyhydramnios Dental crowding Lymphedema Accelerated skeletal maturation Aggressive behavior Hepatitis Renal cyst Sandal gap Microretrognathia Thick vermilion border Nasal speech Broad-based gait Nephrolithiasis Abnormality of the periventricular white matter Chronic diarrhea Unsteady gait Poor eye contact Concave nasal ridge Weak cry Cellulitis Delayed CNS myelination Polycystic kidney dysplasia Prominent supraorbital ridges Bilateral single transverse palmar creases Episodic vomiting Toenail dysplasia Open mouth Poor head control Increased intracranial pressure Narrow face Sparse and thin eyebrow Motor delay Abnormality of the pinna Abnormality of nervous system morphology Flared nostrils Toe clinodactyly Deep plantar creases Thick nasal alae Abnormality of the thorax Unilateral cryptorchidism Proximal placement of thumb Thick hair Dysplastic corpus callosum Intestinal atresia Microphallus Mild short stature Overlapping fingers Slender finger Thick upper lip vermilion Abnormality of digit Insomnia Anisocoria Large fleshy ears Irritability Diarrhea Intellectual disability, moderate Anxiety EEG abnormality Constipation Hyporeflexia Midface retrusion Headache Behavioral abnormality Vomiting Long palm Gait disturbance Tongue thrusting Cognitive impairment Abnormality of the voice Abnormality of the proximal phalanx of the thumb Medial flaring of the eyebrow Gastrointestinal atresia Conspicuously happy disposition Hyperorality Alveolar ridge overgrowth Fulminant hepatic failure Ectodermal dysplasia Brittle hair Atresia of the external auditory canal Sparse eyelashes Conjunctivitis Sinusitis Hyperpigmentation of the skin Choanal atresia Recurrent otitis media Otitis media Palmoplantar keratoderma Hammertoe Hypotrichosis Nail dystrophy Microtia Scarring Sparse hair Abnormality of the nervous system Conductive hearing impairment Hyperkeratosis Abnormality of the pons Birth length greater than 97th percentile Erythroderma Anhidrosis Congenital diaphragmatic hernia Skin erosion Vaginal dryness Fibrous syngnathia 3-4 toe syndactyly Bilateral choanal atresia Lacrimal duct atresia Patchy alopecia Oval face Hyperconvex nail Orthokeratosis Plantar hyperkeratosis Selective tooth agenesis Supernumerary nipple Conical tooth Pili torti Trismus Chronic sinusitis Blepharitis Pustule Ectrodactyly Keratoconjunctivitis sicca Sparse body hair Agenesis of permanent teeth Olfactory lobe agenesis Triangular mouth Spasticity Apnea Webbed neck Gliosis Generalized myoclonic seizures Hemolytic anemia Downturned corners of mouth Cirrhosis Ichthyosis Abnormality of eye movement Stroke Abnormality of the eye Neuronal loss in central nervous system Respiratory failure Cerebral cortical atrophy Myoclonus Cerebellar hypoplasia Encephalopathy Cerebral atrophy Cerebellar atrophy Hyperreflexia Hepatomegaly Anemia Epileptic encephalopathy Overgrowth Micronodular cirrhosis Infantile spasms Duplicated collecting system Hemoglobinuria Seborrheic dermatitis Breech presentation Developmental stagnation Cardiorespiratory arrest Pierre-Robin sequence Epileptic spasms Central hypotonia Absent septum pellucidum Prominent occiput Limb undergrowth Large for gestational age Overfolded helix Scaling skin Redundant skin Elevated alkaline phosphatase Gingival overgrowth Postnatal microcephaly Large fontanelles Hypsarrhythmia Generalized-onset seizure Thick lower lip vermilion Ectopic posterior pituitary Highly arched eyebrow Prominent superficial veins Hypoplastic male external genitalia Synostosis of joints Aplasia/Hypoplasia of the distal phalanges of the toes Popliteal pterygium Sparse or absent eyelashes Short sternum Alopecia totalis Labial hypoplasia Eyelid coloboma Adactyly Hypoplastic labia majora Skin tags Median cleft lip Aplasia cutis congenita Facial cleft Multiple cafe-au-lait spots Absent thumb Truncal obesity Aplasia/Hypoplasia of the eyebrow Unilateral renal hypoplasia Oral synechia Bilateral cryptorchidism Postaxial polydactyly Pyloric stenosis Laryngomalacia Hypoplasia of the radius Abnormality of the metacarpal bones Abnormality of the fingernails Hypoplasia of penis Postaxial hand polydactyly Convex nasal ridge Round face Tachycardia Sparse lower eyelashes Anal atresia Delayed puberty Pectus carinatum Mandibular prognathia Polydactyly Hyperhidrosis Arrhythmia Symblepharon Bilateral cleft palate Mask-like facies Absent eyebrow Bifid scrotum Cutis marmorata Intellectual disability, progressive Congenital hip dislocation Broad thumb Respiratory tract infection Thin upper lip vermilion Skull asymmetry Severe failure to thrive Protruding tongue Failure to thrive in infancy Broad palm Lissencephaly Left ventricular hypertrophy Ventricular hypertrophy Dandy-Walker malformation Bifid uvula Macroglossia Hypertrophic cardiomyopathy Cardiomyopathy Hydrocephalus Short finger Hyperactive deep tendon reflexes Ectropion Confusion Pterygium Renal hypoplasia/aplasia Narrow palpebral fissure Opacification of the corneal stroma Short phalanx of finger Omphalocele Sparse scalp hair Short palpebral fissure Ambiguous genitalia Talipes Scaphocephaly Arthrogryposis multiplex congenita Corneal opacity Finger syndactyly Blepharophimosis Pes planus Facial capillary hemangioma U-Shaped upper lip vermilion Abnormality of the rib cage Thickened nuchal skin fold Hand polydactyly Hypoplasia of the ulna Small hand Hypopituitarism Pituitary dwarfism Thoracolumbar kyphoscoliosis Abnormal anterior horn cell morphology Prolactin deficiency Adrenocorticotropic hormone deficiency Panhypopituitarism Pituitary hypothyroidism Thoracic kyphosis Hyperextensible skin Hypothalamic luteinizing hormone-releasing hormone deficiency Cyanosis Joint hypermobility Carious teeth Hyperlordosis Jaundice Skeletal dysplasia Severe short stature Kyphosis Myopathy Lumbar kyphosis Scoliosis Unilateral oligodactyly Prominent nasal bridge Iris coloboma Short palm Polymicrogyria Long face Arachnodactyly Smooth philtrum Joint hyperflexibility Small for gestational age Broad forehead Attention deficit hyperactivity disorder Nystagmus Postnatal growth retardation Feeding difficulties in infancy Low-set, posteriorly rotated ears Joint laxity High forehead Hypogonadism Pes cavus Dilatation Downslanted palpebral fissures Abnormality of the skeletal system Axillary apocrine gland hypoplasia External genital hypoplasia Abnormality of the clavicle Abnormality of the uterus Wolff-Parkinson-White syndrome Sparse lateral eyebrow Sparse axillary hair Supraventricular tachycardia Ectopic anus Abnormality of the wrist Abnormality of finger Sprengel anomaly Perimembranous ventricular septal defect Short clavicles Inverted nipples Shawl scrotum Absent radius Oligodactyly Hypoplastic nipples Short humerus Hyperthyroidism Decreased fertility Broad face Breast hypoplasia Deformed radius Body odor Long uvula Short 5th toe Short 4th toe Imperforate hymen Aplasia of the pectoralis major muscle Laryngeal web Hernia of the abdominal wall Absent axillary hair Abnormal external genitalia Aplasia of the ulna Abnormality of the humerus Absent hand Abnormality of the radius Abnormality of temperature regulation Laryngeal stenosis Aplasia/Hypoplasia of the ulna Broad eyebrow Subglottic stenosis Gastroschisis Breast aplasia Otitis externa



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