Intellectual disability, severe, and Hyperhidrosis

Diseases related with Intellectual disability, severe and Hyperhidrosis

In the following list you will find some of the most common rare diseases related to Intellectual disability, severe and Hyperhidrosis that can help you solving undiagnosed cases.

Top matches:

Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterized by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated.

FATAL INFANTILE LACTIC ACIDOSIS WITH METHYLMALONIC ACIDURIA Is also known as lactic acidosis, fatal infantile, formerly

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FATAL INFANTILE LACTIC ACIDOSIS WITH METHYLMALONIC ACIDURIA

Alopecia-intellectual deficit syndrome is an extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia.

ALOPECIA-INTELLECTUAL DISABILITY SYNDROME Is also known as perniola-krajewska-carnevale syndrome|amr syndrome|apmr

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALOPECIA-INTELLECTUAL DISABILITY SYNDROME

Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Hypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples. Ectodermal dysplasia-1, due to mutation in the EDA gene, is the most frequent form of hypohidrotic ectodermal dysplasia (summary by Cluzeau et al., 2011).

X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA Is also known as xhed|ectd1|cst syndrome|ed1|christ-siemens-touraine syndrome|eda1|eda|ectodermal dysplasia, anhidrotic, x-linked|ectodermal dysplasia, hypohidrotic, 1|x-linked anhidrotic ectodermal dysplasia|hed1|xlhed|ectodermal dysplasia 1, hypohidrotic/hair/tooth type

Related symptoms:

  • Intellectual disability
  • Feeding difficulties
  • Depressed nasal bridge
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA

Other less relevant matches:

2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features.

2Q32Q33 MICRODELETION SYNDROME Is also known as monosomy 2q32-q33|2q32-q33 microdeletion syndrome|del(2)(q32q33)|chromosome 2q32-q33 deletion syndrome|monosomy 2q32q33|del(2)(q32)|monosomy 2q32

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 2Q32Q33 MICRODELETION SYNDROME

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

Crisponi/cold-induced sweating syndrome is an autosomal recessive disorder characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. During the first year, most infants have spiking fevers. These features, referred to as 'Crisponi syndrome' in infancy, can result in early death without advanced care. After the first 2 years, the abnormal muscle contractions and fevers abate, and most patients show normal psychomotor development. From childhood onward, the most disabling symptoms stem from impaired thermoregulation and disabling abnormal sweating, which can be treated with clonidine. Patients have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis (summary by Hahn et al., 2010). Genetic Heterogeneity of Crisponi/Cold-Induced Sweating SyndromeCrisponi/cold-induced sweating syndrome-2 (CISS2 ), which is clinically indistinguishable from CISS1, is caused by mutation in the CLCF1 gene (OMIM ) on chromosome 11q13. CISS3 (OMIM ) is caused by mutation in the KLHL7 gene (OMIM ) on chromosome 7p15.

CRISPONI/COLD-INDUCED SWEATING SYNDROME 1; CISS1 Is also known as crisponi syndrome|sohar-crisponi syndrome|muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Micrognathia


SOURCES: MESH OMIM MENDELIAN

More info about CRISPONI/COLD-INDUCED SWEATING SYNDROME 1; CISS1

High match FUCOSIDOSIS

Fucosidosis is an extremely rare lysosomal storage disorder characterized by a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis.

FUCOSIDOSIS Is also known as alpha-l-fucosidase deficiency

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about FUCOSIDOSIS

Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth.

ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME Is also known as ichthyosis follicularis-atrichia-photophobia syndrome|ifap syndrome|ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cle

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME

The Cornelia de Lange syndrome (CDLS) is a multisystem malformation syndrome recognized primarily on the basis of characteristic facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, upper limb anomalies. However, there is wide clinical variability in this disorder, with milder phenotypes that may be difficult to ascertain on the basis of physical features (summary by Rohatgi et al., 2010).Boyle et al. (2015) provided a detailed review of CDLS, including clinical features, diagnosis, and genetic counseling. Genetic Heterogeneity of Cornelia de Lange SyndromeAbout 50 to 60% of the cases of CDLS are due to mutation in the NIPBL gene (Musio et al., 2006; Rohatgi et al., 2010).One X-linked form of CDLS (CDLS2 ) is caused by mutation in the SMC1A gene (OMIM ), which accounts for about 5% of cases. Two milder variants of Cornelia de Lange syndrome have been identified: CDLS3 (OMIM ), caused by mutation in the SMC3 gene (OMIM ), and CDLS4 (OMIM ), caused by mutation in the RAD21 gene (OMIM ). All 4 genes, NIPBL, SMC1A, SMC3, and RAD21, encode components of the cohesin complex. Another X-linked form, CDLS5 (OMIM ), is caused by mutation in the HDAC8 gene (OMIM ), the vertebrate histone deacetylase of SMC3.

CORNELIA DE LANGE SYNDROME 1; CDLS1 Is also known as typus degenerativus amstelodamensis|brachmann-de lange syndrome|cdl|de lange syndrome|cdls|bdls

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 1; CDLS1

Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.

CARDIOFACIOCUTANEOUS SYNDROME Is also known as cfcs|cfc syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME

Top 5 symptoms//phenotypes associated to Intellectual disability, severe and Hyperhidrosis

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Growth delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Intellectual disability, severe and Hyperhidrosis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Muscular hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Feeding difficulties

Common Symptoms - More than 50% cases

Scoliosis

Uncommon Symptoms - Between 30% and 50% cases

Hearing impairment

Common Symptoms - More than 50% cases

Delayed speech and language development

Uncommon Symptoms - Between 30% and 50% cases

Macrocephaly Hypertonia Kyphosis Flexion contracture Microcephaly Delayed skeletal maturation Abnormality of the dentition Hernia Depressed nasal bridge Cryptorchidism Inguinal hernia High palate Generalized hypotonia Hypertelorism Failure to thrive Micrognathia Aggressive behavior Frontal bossing Prominent forehead Respiratory tract infection Dry skin Low-set ears Cleft palate Long philtrum Abnormal facial shape Camptodactyly Relative macrocephaly Clinodactyly of the 5th finger Anteverted nares Short neck Behavioral abnormality Malar flattening Recurrent respiratory infections Ptosis Wide nasal bridge Fever Spasticity Respiratory distress Hypohidrosis Short nose Immunodeficiency Downslanted palpebral fissures Absent eyebrow Talipes equinovarus Sparse hair Ectodermal dysplasia Hyperkeratosis Abnormality of the nail Absent eyelashes Highly arched eyebrow Strabismus Hypotrichosis Autism Ventriculomegaly Brachydactyly Cerebral atrophy Cardiomyopathy Astigmatism Intrauterine growth retardation Skeletal muscle atrophy Sleep disturbance Abnormality of the cerebral white matter Hypoplasia of the corpus callosum Mandibular prognathia Coarse facial features Bulbous nose Myopia Nystagmus Ichthyosis Brachycephaly Aplasia/Hypoplasia of the eyebrow Hyperactivity Narrow mouth High forehead Alopecia Falls EEG abnormality Macrotia Short palm

Rare Symptoms - Less than 30% cases

Hemiparesis Interphalangeal joint contracture of finger Cubitus valgus Joint hypermobility Small hand Broad-based gait Long eyelashes Macroglossia Camptodactyly of finger Overlapping toe Abnormality of digit Restlessness Narrow nose Toe syndactyly Alopecia of scalp Gait disturbance Blepharophimosis Hypospadias Pes planus Synophrys Neurological speech impairment Abnormality of the pinna Biparietal narrowing Open bite Splenomegaly Abnormal hair pattern Vomiting Telecanthus Hypertrophic cardiomyopathy Gastroesophageal reflux Proptosis Abnormal heart morphology Severe short stature Thrombocytopenia Cerebral cortical atrophy Umbilical hernia Hydronephrosis Abnormality of the kidney Erythema Scarring Hip dislocation Nail dystrophy High, narrow palate Atrial septal defect Pulmonary hypoplasia Hydrocephalus Palmoplantar keratoderma Ventricular septal defect Optic atrophy Neoplasm Choanal atresia Scaling skin Hydroureter Ectrodactyly Oligodactyly Submucous cleft hard palate Abnormal eyelash morphology Pulmonic stenosis Vesicoureteral reflux Panhypopituitarism Limited elbow extension Clinodactyly Polyhydramnios Kyphoscoliosis Retrognathia Feeding difficulties in infancy Irritability Dolichocephaly Tapered finger Full cheeks Recurrent urinary tract infections Elbow flexion contracture Thick upper lip vermilion Keratitis Opisthotonus Abnormality of the gastrointestinal tract Webbed neck Poor appetite Hepatomegaly Decreased testicular size Recurrent infections Conductive hearing impairment Deep philtrum Corneal opacity Abnormality of the cardiovascular system Cardiomegaly Decreased body weight Chronic otitis media Neurodevelopmental delay Aspiration Low posterior hairline Fine hair Epicanthus Joint hyperflexibility Hypertension Brittle hair Osteopenia Delayed eruption of teeth Sparse body hair Thick vermilion border Hypoplastic nipples Alopecia universalis Talipes Hyperreflexia Hypoglycemia Heat intolerance Microdontia Prominent nasal bridge Short philtrum Attention deficit hyperactivity disorder Postnatal growth retardation Mental deterioration Conical tooth Absent speech Posteriorly rotated ears Joint laxity Osteoporosis Thin upper lip vermilion Underdeveloped nasal alae Anhidrosis Thin skin Prominent nose Wide nose Obesity Dystonia Respiratory insufficiency Thin vermilion border Downturned corners of mouth Photophobia Muscle weakness Sparse scalp hair Long face Dental malocclusion Ataxia Nail dysplasia Sparse eyelashes Eczema Encephalopathy Thick eyebrow Single transverse palmar crease Increased nuchal translucency Micromelia Blue sclerae Renal hypoplasia Vertigo Sparse or absent eyelashes High myopia Congenital diaphragmatic hernia Otitis media Cleft upper lip Hirsutism Sepsis Triangular face Renal cyst Microcornea Multiple lentigines Large for gestational age Hypertrichosis Incoordination Cutis marmorata Tricuspid regurgitation Clubbing Proximal placement of thumb Thickened helices Self-injurious behavior Subvalvular aortic stenosis Pyloric stenosis Short metatarsal Abnormal aortic valve morphology Hyperextensibility of the finger joints Cavernous hemangioma Abnormality of the urinary system Abnormality of the pulmonary artery Hypoplasia of the radius Widely spaced teeth Torticollis Excessive wrinkled skin Craniosynostosis Spontaneous abortion Increased body weight Low anterior hairline Abnormality of hair texture Small for gestational age Headache Autistic behavior Abnormal nasolacrimal system morphology Multiple plantar creases Unilateral chest hypoplasia Ichthyosis follicularis Abnormal pelvis bone morphology Thin fingernail Scleritis Hypoplasia of the bladder Cerebral cortical hemiatrophy Paronychia Episcleritis Hyperconvex fingernails Abnormality of temperature regulation Subcortical cerebral atrophy Sensorineural hearing impairment Corneal scarring Abnormality of the upper urinary tract Cheilitis Oxycephaly Thin eyebrow Alopecia totalis Olivopontocerebellar atrophy Recurrent corneal erosions Hypoplastic fingernail Follicular hyperkeratosis Corneal erosion Abnormal eyelid morphology Eyelid fasciculation Anemia Pallor Generalized ichthyosis Endocarditis Proteinuria Frontal balding Anterior creases of earlobe Abnormality of the optic disc Glaucoma Pneumonia Abnormal tricuspid valve morphology Patchy alopecia Optic nerve dysplasia Hypoplasia of the frontal lobes 2-3 toe syndactyly Laryngeal cleft Abnormality of the skeletal system Functional abnormality of the gastrointestinal tract Syndactyly Tongue thrusting Hyperkeratosis pilaris Abnormality of the hairline Abnormal location of ears Puberty and gonadal disorders Morphological abnormality of the gastrointestinal tract Cutaneous T-cell lymphoma Inappropriate crying Abnormality of the auditory canal Multiple palmar creases Short middle phalanx of finger Abnormality of refraction Ectopic kidney Multiple cafe-au-lait spots Myocardial infarction Coarctation of aorta Narrow forehead Infantile spasms Progressive visual loss Abnormality of the sternum Long palpebral fissure Abnormal heart valve morphology Growth hormone deficiency Premature birth Intestinal malrotation Nevus Abnormal bleeding Open mouth Abdominal distention Curly hair Hepatic steatosis Generalized hyperpigmentation Retinal dystrophy Anal stenosis Bruising susceptibility Underdeveloped supraorbital ridges Abnormality of skin pigmentation Peripheral axonal neuropathy Atopic dermatitis Genu valgum Hypermetropia Inflammatory abnormality of the skin Thickened skin Leukemia Optic nerve hypoplasia Heart murmur Melanocytic nevus Ectropion Pleural effusion Sparse eyebrow Bilateral ptosis Failure to thrive in infancy Redundant skin Hyperextensible skin Poor suck Abnormality of vision Palmoplantar hyperkeratosis Malnutrition Cafe-au-lait spot Delayed gross motor development Neurofibromas Abnormality of the genitourinary system Sleep apnea Hemangioma Aplasia/Hypoplasia of the corpus callosum Abnormal palate morphology Cutis laxa Oculomotor apraxia Narrow palate Cerebral visual impairment Hyperpigmentation of the skin Lymphedema Pruritus Pectus carinatum Weak cry Short sternum Curly eyelashes Absent hand Dystrophic fingernails Abnormality of the optic nerve Abnormality of the testis Gastroparesis Delayed CNS myelination Supernumerary ribs Abnormal myocardium morphology Phocomelia Hand oligodactyly Perimembranous ventricular septal defect Peters anomaly Hypoplastic male external genitalia Volvulus Recurrent hypoglycemia Obsessive-compulsive behavior Deep palmar crease Optic nerve coloboma Gastrointestinal dysmotility Abnormal mitral valve morphology Hypoplastic labia majora Esophagitis Aspiration pneumonia Hiatus hernia Slow-growing hair Dislocated radial head Woolly hair Esophageal stenosis Abnormal cardiac septum morphology Dysphagia Abnormality of the eye Low-set, posteriorly rotated ears Arnold-Chiari type I malformation Constipation Enlarged kidney Pectus excavatum Depressivity Abnormality of cardiovascular system morphology Congestive heart failure Blindness Hypoplasia of the zygomatic bone Edema Dysarthria Short attention span Cataract Premature skin wrinkling Dysplastic tricuspid valve Abnormality of the ulna Hypoplastic radial head Abnormality of the umbilicus Reduced renal corticomedullary differentiation Otitis media with effusion Malrotation of colon Duplication of internal organs Projectile vomiting Left-to-right shunt Hypertropia Blepharitis Abnormal form of the vertebral bodies Parakeratosis Long nose Median cleft palate Toe clinodactyly Happy demeanor Pes valgus Overbite Excessive salivation Generalized osteoporosis Cleft soft palate Broad hallux phalanx Short columella Self-mutilation Abnormality of the periventricular white matter Myopathic facies Dacryocystitis Bilateral talipes equinovarus Abnormality of dental morphology Dermal atrophy Tented upper lip vermilion Oligodontia Drooling Microretrognathia Dental crowding Broad thumb Short palpebral fissure Intellectual disability, profound Convex nasal ridge Febrile seizures Large beaked nose Incomprehensible speech Smooth philtrum Hypoplasia of penis Abnormality of the musculature Truncal obesity Cortical gyral simplification Cortical dysplasia Large hands Cachexia Acanthosis nigricans Sandal gap Narrow palpebral fissure Gynecomastia Short thumb Thick lower lip vermilion Intention tremor Memory impairment Narrow maxilla Short foot Polymicrogyria Delayed puberty Wide mouth Intellectual disability, moderate Gait ataxia Micropenis Hypogonadism Pes cavus Tremor Motor delay Narrow jaw Conspicuously happy disposition Arachnodactyly Poor speech Striae distensae Severe lactic acidosis Abnormality of skeletal morphology Abnormal nasal morphology Intellectual disability, progressive Hypergonadotropic hypogonadism Split hand Intellectual disability, mild Intermittent hyperpnea at rest Renal aminoaciduria Episodic metabolic acidosis Poor motor coordination Necrotizing encephalopathy Methylmalonic aciduria Muscle fibrillation Short distal phalanx of finger Hypophosphatemia Shock Progressive neurologic deterioration Abnormality of the skin Aciduria Metabolic acidosis Lactic acidosis Unsteady gait Severe global developmental delay Muscular hypotonia of the trunk Abnormality of the nervous system Acidosis Respiratory failure Short corpus callosum Everted lower lip vermilion Facial asymmetry Concave nail Abnormality of the foot Broad forehead Anxiety Midface retrusion Hypoplastic-absent sebaceous glands Aplasia/Hypoplastia of the eccrine sweat glands Periorbital hyperpigmentation Periorbital wrinkles Everted upper lip vermilion Abnormal oral mucosa morphology Hypohidrotic ectodermal dysplasia Anhidrotic ectodermal dysplasia Absent nipple Anterior hypopituitarism Hypoplasia of the maxilla Anodontia Taurodontia Soft skin Rhinitis Agenesis of permanent teeth Prominent supraorbital ridges Dysphonia Short chin Type I diabetes mellitus Hoarse voice Sparse and thin eyebrow Depressed nasal ridge Hypodontia Cerebellar vermis atrophy Scaphocephaly Uveitis Elevated sweat chloride Platyspondyly Papule Developmental regression Polydactyly Dementia Agenesis of corpus callosum Cerebellar hypoplasia Dilatation Microphthalmia Anterior beaking of thoracic vertebrae Glycopeptiduria Tortuosity of conjunctival vessels Abnormality of central motor function Brain atrophy Eye of the tiger anomaly of globus pallidus Anterior beaking of lumbar vertebrae Increased hepatic glycogen content Abnormality of the acetabulum Abnormality of mucopolysaccharide metabolism Abnormal globus pallidus morphology Angiokeratoma corporis diffusum Oligosacchariduria Abnormality of the gallbladder Progressive psychomotor deterioration Angiokeratoma Broad long bones Generalized hyperkeratosis Postaxial polydactyly Specific learning disability Cerebral hypomyelination Opacification of the corneal stroma Atonic seizures Congenital ichthyosiform erythroderma Abnormality of the vertebral column Absent septum pellucidum Mixed hearing impairment Intestinal obstruction Bifid scrotum Unilateral renal agenesis Erythroderma Psoriasiform dermatitis Urticaria Abnormality of the hand Plagiocephaly Abnormality of dental enamel Postaxial hand polydactyly Conjunctivitis Recurrent bacterial infections Hemivertebrae Multicystic kidney dysplasia Abnormality of the hair Abnormal vertebral morphology Hypoplasia of dental enamel Renal dysplasia Aganglionic megacolon Omphalocele Epidermal acanthosis Abnormality of the ribs Oligohydramnios Vascular skin abnormality Abnormality of the abdominal wall Down-sloping shoulders Apnea Episodic fever Acute kidney injury Disproportionate tall stature Radial deviation of finger Nasal speech Adducted thumb Generalized-onset seizure Dehydration Cyanosis Round face Limitation of joint mobility Sudden cardiac death Carious teeth Facial palsy Trismus Dyspnea Hyporeflexia Renal insufficiency Cognitive impairment Pain Abnormality of toe Moderately short stature Mood swings Small earlobe Abnormality of earlobe Abdominal obesity Tics Distal lower limb amyotrophy Malignant hyperthermia Central apnea Vacuolated lymphocytes Spastic tetraplegia Mucopolysacchariduria Abnormal cornea morphology Visceromegaly Dysostosis multiplex Acrocyanosis Hypoplasia of the odontoid process Lipoatrophy Decreased muscle mass Abnormality of pelvic girdle bone morphology Coxa valga Spastic gait Gingival overgrowth Telangiectasia Dysmetria Large face Abnormal pyramidal sign Skeletal dysplasia Hypothyroidism Cerebellar atrophy Cold-induced sweating Facial tics Smooth tongue Hypernatremic dehydration Bilateral camptodactyly Unexplained fevers Hypopnea Temperature instability Velopharyngeal insufficiency Oral aversion


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