Immunodeficiency, and Dental malocclusion

Diseases related with Immunodeficiency and Dental malocclusion

In the following list you will find some of the most common rare diseases related to Immunodeficiency and Dental malocclusion that can help you solving undiagnosed cases.

Top matches:

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

Fraser syndrome is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract (summary by van Haelst et al., 2008). Genetic Heterogeneity of Fraser SyndromeFraser syndrome-2 (FRASRS2) is caused by mutation in the FREM2 gene (OMIM ) on chromosome 13q13, and Fraser syndrome-3 (FRASRS3) is caused by mutation in the GRIP1 gene (OMIM ) on chromosome 12q14.See Bowen syndrome (OMIM ) for a comparable but probably distinct syndrome of multiple congenital malformations.

FRASER SYNDROME 1; FRASRS1 Is also known as cryptophthalmos with other malformations|fraser syndrome|cryptophthalmos-syndactyly syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Hypertelorism
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about FRASER SYNDROME 1; FRASRS1

Takenouchi-Kosaki syndrome is a highly heterogeneous autosomal dominant complex congenital developmental disorder affecting multiple organ systems. The core phenotype includes delayed psychomotor development with variable intellectual disability, dysmorphic facial features, and cardiac, genitourinary, and hematologic or lymphatic defects, including thrombocytopenia and lymphedema. Additional features may include abnormalities on brain imaging, skeletal anomalies, and recurrent infections. Some patients have a milder disease course reminiscent of Noonan syndrome (see, e.g., NS1, {163950}) (summary by Martinelli et al., 2018).

MACROTHROMBOCYTOPENIA-LYMPHEDEMA-DEVELOPMENTAL DELAY-FACIAL DYSMORPHISM-CAMPTODACTYLY SYNDROME Is also known as takenouchi-kosaki syndrome|macrothrombocytopenia and mental retardation syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MACROTHROMBOCYTOPENIA-LYMPHEDEMA-DEVELOPMENTAL DELAY-FACIAL DYSMORPHISM-CAMPTODACTYLY SYNDROME

Other less relevant matches:

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

Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed psychomotor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment (summary by Malm and Nilssen, 2008). Classification SystemsTwo classification systems have been used to describe the clinical presentation of alpha-mannosidosis. The earlier system delineated a more severe 'type I,' which shows infantile onset, rapid mental deterioration, hypotonia, splenomegaly, severe dysostosis multiplex, and severe recurrent infections, often resulting in death by age 8 years. Individuals with the less severe 'type II' show normal early development with later childhood development of mental retardation, hearing loss, coarse facies, neurologic deterioration, and survival well into adulthood (summary by Desnick et al., 1976 and Gotoda et al., 1998). A later classification system delineated 3 clinical types. Type 1 is the mildest form, with onset after age 10 years, without skeletal abnormalities and very slow progression. Type 2 is a moderate form, with onset before age 10 years, presence of skeletal abnormalities, and slow progression with development of ataxia by age 20 to 30 years. Type 3 is the severe form, with onset in early infancy, skeletal abnormalities, and obvious progression leading to early death from primary central nervous system involvement or myopathy. Most patients belong to clinical type 2 (summary by Malm and Nilssen, 2008). Despite the clinical heterogeneity of the disorder, there are no apparent genotype/phenotype correlations (Berg et al., 1999; Riise Stensland et al., 2012).

MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA Is also known as alpha-mannosidosis|lysosomal alpha-d-mannosidase deficiency|alpha-mannosidase b deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy (Niikawa et al., 1981). Genetic HeterogeneityKabuki syndrome-2 (OMIM ) is caused by mutation in the KDM6A gene (OMIM ) on chromosome Xp11.3.

KABUKI SYNDROME 1; KABUK1 Is also known as kabuki syndrome|kabuki make-up syndrome|kms|niikawa-kuroki syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about KABUKI SYNDROME 1; KABUK1

Rubinstein-Taybi syndrome is a multiple congenital anomaly syndrome characterized by mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features. The facial appearance is striking, with highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly arched palate, mild micrognathia, and characteristic grimacing or abnormal smile. Affected individuals also have an increased risk of tumor formation (Rubinstein and Taybi, 1963; review by Hennekam, 2006).Floating-Harbor syndrome (OMIM ), which shows phenotypic overlap with Rubinstein-Taybi syndrome, is caused by mutation in the SRCAP gene (OMIM ), a coactivator for CREBBP. Genetic Heterogeneity of Rubinstein-Taybi SyndromeRubinstein-Taybi syndrome-1 (RSTS1) constitutes about 50 to 70% of patients with the disorder. Rubinstein-Taybi syndrome-2 (RSTS2 ) comprises about 3% of patients and is primarily due to de novo heterozygous mutation in the EP300 gene (OMIM ) on chromosome 22q13 (Bartsch et al., 2010).See also chromosome 16p13.3 deletion syndrome (OMIM ), a severe form of Rubinstein-Taybi syndrome resulting from a contiguous gene deletion involving the CREBBP gene as well as other neighboring genes.

RUBINSTEIN-TAYBI SYNDROME 1; RSTS1 Is also known as broad thumbs and great toes, characteristic facies, and mental retardation|rubinstein syndrome|rsts|broad thumb-hallux syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about RUBINSTEIN-TAYBI SYNDROME 1; RSTS1

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

The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.

PROXIMAL 16P11.2 MICRODELETION SYNDROME Is also known as proximal del(16)(p11.2)|proximal monosomy 16p11.2

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PROXIMAL 16P11.2 MICRODELETION SYNDROME

In patients with SSMED, short stature and microcephaly are apparent at birth, and there is progressive postnatal growth failure. Endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults. Progressive ataxia has been reported in some patients, with onset ranging from the second to fifth decade of life. In addition, a few patients have developed tumors, suggesting that there may be a predisposition to tumorigenesis. In contrast to syndromes involving defects in other components of the nonhomologous end-joining (NHEJ) complex (see, e.g., {606593}), no clinically overt immunodeficiency has been observed in SSMED, although laboratory analysis has revealed lymphopenia or borderline leukopenia in some patients (Murray et al., 2015; Bee et al., 2015; de Bruin et al., 2015; Guo et al., 2015).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED

Top 5 symptoms//phenotypes associated to Immunodeficiency and Dental malocclusion

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Microcephaly Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
Wide nasal bridge Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Immunodeficiency and Dental malocclusion. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Cryptorchidism

Uncommon Symptoms - Between 30% and 50% cases

Seizures

Common Symptoms - More than 50% cases

Delayed speech and language development

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay

Common Symptoms - More than 50% cases

Abnormality of the pinna

Uncommon Symptoms - Between 30% and 50% cases

Muscular hypotonia

Common Symptoms - More than 50% cases

Behavioral abnormality

Uncommon Symptoms - Between 30% and 50% cases

Ventriculomegaly

Common Symptoms - More than 50% cases

Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Recurrent infections

Common Symptoms - More than 50% cases

Growth delay

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis

Common Symptoms - More than 50% cases

Epicanthus

Uncommon Symptoms - Between 30% and 50% cases

Ptosis

Common Symptoms - More than 50% cases

Obesity

Uncommon Symptoms - Between 30% and 50% cases

Macrotia Hypertelorism Abnormal facial shape Deeply set eye Midface retrusion Hernia Inguinal hernia Macrocephaly Micropenis Hypospadias High palate Hyperactivity Hydronephrosis Low-set ears Atrial septal defect Gait disturbance Motor delay Cognitive impairment Long eyelashes Malar flattening Highly arched eyebrow Short stature Micrognathia Thick eyebrow Patent ductus arteriosus Bulbous nose Renal agenesis Feeding difficulties Hypermetropia Abnormality of the dentition Gastroesophageal reflux Clinodactyly of the 5th finger Dental crowding Intellectual disability, mild EEG abnormality Intellectual disability, moderate Absent speech Pes planus Otitis media Coloboma Long philtrum Truncal obesity Abnormality of the skeletal system Hypoplasia of the corpus callosum Clinodactyly Downslanted palpebral fissures Joint laxity Sensorineural hearing impairment Nystagmus Ataxia Respiratory tract infection Kyphosis Mandibular prognathia Unilateral renal agenesis Postnatal growth retardation Ventricular septal defect Anxiety Broad-based gait Prominent nose Intrauterine growth retardation Cataract Joint hypermobility Myopia Synophrys Short neck Short philtrum Wide mouth Posteriorly rotated ears Patellar dislocation Autism Cerebellar vermis atrophy Umbilical hernia Polydactyly Depressed nasal bridge Cleft palate Large hands Lymphedema Renal dysplasia Autistic behavior Pointed chin Agenesis of corpus callosum Abnormal heart morphology

Rare Symptoms - Less than 30% cases

Hirsutism Pes cavus Decreased testicular size Increased intracranial pressure Recurrent upper respiratory tract infections Prominent supraorbital ridges Small hand Blepharophimosis High forehead Hypogonadism Tremor Tall stature Palpebral edema Impaired pain sensation Hypoplastic toenails Dysarthria Optic nerve coloboma Skeletal muscle atrophy Frontal bossing Recurrent skin infections Short chin Arachnoid cyst Sacral dimple Bilateral cryptorchidism Pain Microphthalmia Syndactyly Hydrocephalus Overweight Scaphocephaly Cortical gyral simplification Diarrhea Recurrent pyelonephritis Renal cyst Constipation Hair-pulling Cerebellar cortical atrophy Aggressive behavior Bruxism Protruding ear Unsteady gait Acanthosis nigricans Narrow palpebral fissure Intellectual disability, severe Depressivity Polymicrogyria Premature thelarche Hypertension Neoplasm Full cheeks Failure to thrive Sleep disturbance Anemia Brachydactyly Dilatation Severe short stature Abnormal cornea morphology Hypothyroidism Nausea and vomiting Dolichocephaly Abnormality of the kidney Feeding difficulties in infancy Coarctation of aorta Neonatal hypotonia Congenital diaphragmatic hernia Convex nasal ridge Hydrocele testis Single transverse palmar crease Macroglossia Babinski sign Gait ataxia Accelerated skeletal maturation Coarse facial features Eversion of lateral third of lower eyelids Broad forehead Neurological speech impairment Dysmetria Progressive cerebellar ataxia Vesicoureteral reflux Decreased antibody level in blood Cafe-au-lait spot Psychosis Low anterior hairline Narrow palate Low hanging columella Open bite Hypohidrosis Prominent fingertip pads Delayed skeletal maturation Hyperreflexia Anal atresia Thin upper lip vermilion Smooth philtrum Pulmonic stenosis Optic atrophy Wide nose Tapered finger Corneal opacity Flexion contracture Abnormal cardiac septum morphology Attention deficit hyperactivity disorder Cupped ear Exotropia Cerebellar atrophy Widely spaced teeth Anophthalmia Renal hypoplasia Abnormality of the urinary system Prominent forehead Long nose Thrombocytopenia Abnormality of the sternum Abnormality of the periventricular white matter Anal stenosis Underdeveloped nasal alae Peripheral neuropathy Polyhydramnios Absent nasal bridge Vertical orbital dystopia Proptosis Chorioretinitis Narrow mouth Widely-spaced maxillary central incisors Arrhythmia Nocturnal lagophthalmos Pectus excavatum Respiratory distress Anoperineal fistula Retrognathia Dysphagia Congenital mitral stenosis Glaucoma Low posterior hairline Leukemia Multiple renal cysts Poor coordination Shawl scrotum Neuroblastoma Dislocated radial head Neurofibromas Congenital glaucoma Severe combined immunodeficiency Delayed cranial suture closure Arnold-Chiari type I malformation Severe intrauterine growth retardation Broad hallux Impulsivity Laryngomalacia Iris coloboma Bicuspid aortic valve Spina bifida occulta Wide anterior fontanel Stereotypy Missing ribs Hypoplasia of dental enamel Broad thumb Aganglionic megacolon Mitral regurgitation Pulmonary artery atresia Hypoplasia of the maxilla Recurrent fractures Cardiomyopathy Tics Diabetes mellitus Cholangitis Hypotelorism Apraxia Biliary atresia Bronchomalacia Diaphragmatic eventration Epidermal acanthosis Ureteropelvic junction obstruction Recurrent ear infections Anterior plagiocephaly Trichorrhexis nodosa Broad philtrum Small face Cutaneous photosensitivity Recurrent aspiration pneumonia Mitral stenosis Retinal coloboma Short 5th finger Depressed nasal tip Abnormal lung morphology Short columella Vitiligo Insulin resistance Hashimoto thyroiditis Autoimmune thrombocytopenia IgA deficiency Thyroiditis Sloping forehead Abnormality of the middle ear Rigidity Falls Pilonidal sinus Sparse hair Short nasal septum Retinopathy Self-mutilation Abnormal pyramidal sign Prominent nasal bridge Small for gestational age Prominent eyelashes Liver abscess Dilated cardiomyopathy Long face Sensory neuropathy Bradykinesia Sclerosing cholangitis Polyneuropathy Single ventricle Crossed fused renal ectopia Anorectal anomaly Triangular face Broad nasal tip Limb undergrowth Common atrium Pigmentary retinopathy Vertebral clefting Epibulbar dermoid Syringomyelia Pheochromocytoma Obstructive sleep apnea Memory impairment Hemivertebrae Gynecomastia Multinodular goiter Short thumb Thick lower lip vermilion Intention tremor Microretrognathia Interphalangeal joint contracture of finger Hypoplasia of penis Aortic regurgitation Glioma Short toe Short foot Short palm Joint hyperflexibility Delayed puberty Toe syndactyly Camptodactyly of finger Chronic lung disease Pyloric stenosis Hyperhidrosis Bilateral ptosis Hypertonia Sandal gap Flat face Language impairment Small earlobe Distal lower limb amyotrophy Down-sloping shoulders Restlessness Striae distensae Biparietal narrowing Abnormality of the musculature Panhypopituitarism Abdominal obesity Abnormality of earlobe Gastrointestinal stroma tumor Mood swings Relative macrocephaly Moderately short stature Abnormality of toe Anteverted nares Cortical dysplasia Cubitus valgus Respiratory insufficiency Congenital hypothyroidism Congestive heart failure Short nose Cachexia Talipes Hand polydactyly Plantar crease between first and second toes Capillary hemangioma Rhabdomyosarcoma Bimanual synkinesia Short upper lip Slurred speech Parietal foramina Abnormality of the cervical spine Goiter Facial grimacing Tethered cord Phonophobia Broad distal phalanx of finger Nasolacrimal duct obstruction Duane anomaly Medulloblastoma Abnormal hair pattern Avascular necrosis of the capital femoral epiphysis Abnormality of refraction Flared iliac wings Dyslexia Meningioma Short attention span Leukopenia Bone marrow hypocellularity Hypoplastic iliac wing Frontal upsweep of hair Keloids Radial deviation of thumb terminal phalanx Ectopic kidney Lymphopenia Combined immunodeficiency Shuffling gait Misalignment of teeth Abnormal number of teeth Increased circulating gonadotropin level High axial triradius Papillary cystadenoma of the epididymis Enlarged tonsils Abnormality of lipid metabolism Talon cusp High pitched voice Chorioretinal dystrophy Deviated nasal septum Narrow maxilla Large foramen magnum Agoraphobia Sensory axonal neuropathy Bifid uterus Vascular ring Duplication of phalanx of hallux Postural tremor Dyscalculia Dysdiadochokinesis Hypergonadotropic hypogonadism Delusions Autoimmune hemolytic anemia Sparse eyebrow Intestinal lymphangiectasia Macrothrombocytopenia Increased mean platelet volume Total anomalous pulmonary venous return Anomalous pulmonary venous return Protein-losing enteropathy Mild microcephaly Retinal dysplasia Congenital nystagmus Pericardial effusion Overlapping toe Proximal placement of thumb Hypoalbuminemia Vomiting Tented upper lip vermilion Abnormal intestine morphology Progressive microcephaly Bilateral sensorineural hearing impairment Narrow forehead Dandy-Walker malformation Webbed neck Nevus Ascites Retinal detachment Downturned corners of mouth Camptodactyly Flared nostrils Headache Cerebral cortical atrophy Polycystic kidney dysplasia Tongue thrusting Hyperorality Toenail dysplasia Episodic vomiting Periorbital fullness Delayed CNS myelination Concave nasal ridge Heat intolerance Poor eye contact Weak cry Cellulitis 2-3 toe syndactyly Poor head control Hyporeflexia Abnormality of the outer ear Multicystic kidney dysplasia Cerebral visual impairment Chronic diarrhea Nephrolithiasis Abnormality of the genital system Hepatitis High, narrow palate Thick vermilion border Hepatic failure Facial asymmetry Irritability Reduced visual acuity Upslanted palpebral fissure Muscle weakness Atresia of the external auditory canal Calvarial skull defect Choanal stenosis Myelomeningocele Postaxial foot polydactyly Absent eyelashes Foot polydactyly Facial cleft Gonadal dysgenesis Aplasia/Hypoplasia of the thumb Cutaneous finger syndactyly Absent eyebrow Clitoral hypertrophy Renal hypoplasia/aplasia Bicornuate uterus Cutaneous syndactyly Encephalocele Oligohydramnios Ambiguous genitalia Wide intermamillary distance Postaxial polydactyly Pulmonary hypoplasia Cleft upper lip Finger syndactyly Cleft lip Conductive hearing impairment Blindness Abnormal cortical gyration Vaginal atresia Cerebellar hypoplasia Aplasia/Hypoplasia of the phalanges of the hand Abnormality of the umbilicus Aplasia/Hypoplasia of the sternum Malformed lacrimal duct Extension of hair growth on temples to lateral eyebrow Laryngeal atresia Abnormality of the small intestine Severe T-cell immunodeficiency Wide pubic symphysis Midline nasal groove Lacrimal duct aplasia Hypoplastic superior helix Morphological abnormality of the middle ear Laryngeal web Gonadoblastoma Cryptophthalmos Cleft ala nasi Difficulty in tongue movements Urethral atresia Abnormality of the nares Abnormality of the thymus Upper eyelid coloboma Laryngeal stenosis Abnormality of the anus Bilateral renal agenesis Subglottic stenosis Bilateral microphthalmos Fulminant hepatic failure Spasticity Transposition of the great arteries Antineutrophil antibody positivity Autoimmunity Paralysis Hypoglycemia Jaundice Pneumonia Visual loss Renal insufficiency Spinocerebellar tract disease in lower limbs Flattened moderately deformed vertebrae Synovial hypertrophy Progressive joint destruction Abnormality of dental structure Abnormality of joint mobility Astigmatism Abnormality of the ilium Hypoplastic inferior ilia Decreased pulmonary function Generalized abnormality of skin Increased hepatic glycogen content Increased vertebral height Spondylolysis Oligosacchariduria Synostosis of joints Cerebral dysmyelination Retinal thinning Long ear Malabsorption Hemolytic anemia Cranial hyperostosis Purpura Severe hearing impairment Long palpebral fissure Celiac disease Right bundle branch block Bundle branch block Hydroureter Preauricular pit Precocious puberty Brittle hair Failure to thrive in infancy Poor suck Abnormal dermatoglyphics Hyperbilirubinemia Hypodontia Horseshoe kidney Congenital hip dislocation Increased body weight Sparse and thin eyebrow Abnormal vertebral morphology Heterotopia Recurrent otitis media Small nail Blue sclerae Microdontia Growth hormone deficiency Intestinal malrotation Abnormality of the gingiva Vacuolated lymphocytes Hepatomegaly Abnormality of the cerebral white matter Pancytopenia Type II diabetes mellitus Optic disc pallor Peripheral demyelination Hip dysplasia Delayed myelination Gliosis Neurodegeneration Retinal degeneration Confusion Genu valgum Abnormality of the foot Pectus carinatum Hypertrichosis Mental deterioration Arthritis Hepatosplenomegaly Skeletal dysplasia Osteopenia Kyphoscoliosis Recurrent respiratory infections Areflexia Cerebral atrophy Splenomegaly Myopathy Talipes equinovarus Depressed nasal ridge Progressive neurologic deterioration Thoracolumbar kyphosis Bronchitis Abnormal echocardiogram Synovitis Abnormality of the rib cage Craniofacial hyperostosis Spondylolisthesis Abnormality of the helix Reduced ejection fraction Dysostosis multiplex Impaired smooth pursuit Severe sensorineural hearing impairment Aseptic necrosis Limb dystonia Thickened calvaria Bowing of the long bones Femoral bowing Neurodevelopmental delay Bowel incontinence Bowing of the legs Flat occiput Heart murmur Chronic otitis media Recurrent bacterial infections Spastic gait Hallucinations Limb ataxia Gingival overgrowth Amblyopia Long neck


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