Myopia, and Eczema

Diseases related with Myopia and Eczema

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

Top matches:

NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C; CSNB1C Is also known as csnb, complete, autosomal recessive

Related symptoms:

  • Nystagmus
  • Myopia
  • Blindness
  • Reduced visual acuity
  • Nyctalopia


SOURCES: MESH OMIM MENDELIAN

More info about NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C; CSNB1C

Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma.

KERATOSIS FOLLICULARIS SPINULOSA DECALVANS Is also known as keratosis follicularis spinulosa decalvans cum ophiasi

Related symptoms:

  • Myopia
  • Alopecia
  • Hyperkeratosis
  • Photophobia
  • Scarring


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KERATOSIS FOLLICULARIS SPINULOSA DECALVANS

Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development.

BIOTINIDASE DEFICIENCY Is also known as multiple carboxylase deficiency, late-onset|multiple carboxylase deficiency, juvenile-onset|btd deficiency|late-onset multiple carboxylase deficiency|juvenile-onset multiple carboxylase deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BIOTINIDASE DEFICIENCY

Other less relevant matches:

The Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders that share the common features of skin hyperextensibility, articular hypermobility, and tissue fragility. The main features of classic Ehlers-Danlos syndrome are loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars (Beighton, 1993). Genetic Heterogeneity of Classic Ehlers-Danlos SyndromeSee EDSCL2 (OMIM ), caused by mutation in the COL5A2 gene (OMIM ) on chromosome 2q32. Classification of Ehlers-Danlos SyndromeThe current OMIM classification of Ehlers-Danlos syndromes is based on a 2017 international classification described by Malfait et al. (2017), which recognizes 13 EDS subtypes: classic, classic-like ({606408}, {618000}), cardiac-valvular (OMIM ), vascular (OMIM ), hypermobile (OMIM ), arthrochalasia ({130060}, {617821}), dermatosparaxis (OMIM ), kyphoscoliotic ({225400}, {614557}), spondylodysplastic ({130070}, {615349}), musculocontractural ({601776}, {615539}), myopathic (OMIM ), periodontal ({130080}, {617174}), and brittle cornea syndrome ({229200}, {614170}). This classification is a revision of the 'Villefranche classification' reported by Beighton et al. (1998), which was widely used in the literature and in OMIM. For a description of the Villefranche classification, see HISTORY.In an early classification of EDS, the designations EDS I and EDS II were used for severe and mild forms of classic EDS, respectively. EDS I was characterized by marked skin involvement and generalized, gross joint laxity, with musculoskeletal deformity and diverse orthopedic complications. Prematurity occurred in approximately 50% of cases. Internal complications such as aortic and bowel rupture were occasionally present. EDS II had all the stigmata of EDS I, but to a minor degree (summary by Steinmann et al., 2002). Both were considered to be forms of classic EDS.

EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1; EDSCL1 Is also known as ehlers-danlos syndrome, gravis type, formerly|eds i, formerly|eds1, formerly|ehlers-danlos syndrome, type i, formerly|ehlers-danlos syndrome, severe classic type, formerly

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Motor delay
  • Hypertension
  • Epicanthus


SOURCES: OMIM MESH MENDELIAN

More info about EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1; EDSCL1

X-linked syndromic mental retardation-33 is an X-linked recessive neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, and characteristic facial features (summary by O'Rawe et al., 2015).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-GLOBAL DEVELOPMENT DELAY-FACIAL DYSMORPHISM-SACRAL CAUDAL REMNANT SYNDROME

The Loeys-Dietz syndrome (LDS) is an autosomal dominant aortic aneurysm syndrome with widespread systemic involvement. As defined by Loeys et al. (2006), the disorder is characterized by the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Some patients have craniofacial involvement consisting of cleft palate, craniosynostosis, or hypertelorism. Bifid uvula may also be present. The natural history is characterized by aggressive arterial aneurysms and a high rate of pregnancy-related complications.LDS is also associated with immunologic-related disorders: approximately one-third of affected individuals exhibit food allergies, in contrast to a prevalence of 6 to 8% in the general population, and LDS patients have an increased prevalence of asthma, rhinitis, and eczema (summary by MacCarrick et al., 2014). NomenclatureIn initial reports, LDS patients, defined as those with mutations in TGFBR1 or TGFBR2, were stratified into 2 types, depending on severity of craniofacial features (type 1) or cutaneous features (type 2) (MacCarrick et al., 2014). Given that vascular disease is the major concern in LDS irrespective of the severity of systemic features, a revised nosology was proposed with sequential numbering corresponding to the gene mutant in each group (see below). Genetic Heterogeneity of Loeys-Dietz SyndromeLDS1 is caused by mutation in the TGFBR1 gene. LDS2 (OMIM ) is caused by mutation in the TGFBR2 gene (OMIM ). LDS3 (OMIM ), which is associated with early-onset osteoarthritis, is caused by mutation in the SMAD3 gene (OMIM ). LDS4 (OMIM ) is caused by mutation in the TGFB2 gene (OMIM ). LDS5 (OMIM ) is caused by mutation in the TGFB3 gene (OMIM ). ReviewsMacCarrick et al. (2014) provided a review of LDS, stating that there are no specific clinical criteria for the diagnosis, which is confirmed by molecular testing. They proposed that mutation in any of the 4 genes, TGFBR1, TGFBR2, SMAD3, or TGFB2, in combination with arterial aneurysm or dissection or a family history of documented LDS, should be sufficient to establish the diagnosis. The authors noted that rapidly progressive aortic aneurysmal disease is a distinct feature of LDS, and they discussed management strategies for cardiovascular issues as well as other complications of LDS.

LOEYS-DIETZ SYNDROME 1; LDS1 Is also known as aat5|aortic aneurysm, familial thoracic 5|loeys-dietz aortic aneurysm syndrome|furlong syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LOEYS-DIETZ SYNDROME 1; LDS1

Medium match DUBOWITZ SYNDROME

Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about DUBOWITZ SYNDROME

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

Coffin-Siris syndrome is a multiple malformation syndrome characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails. Other more variable features may include poor overall growth, craniofacial abnormalities, spinal anomalies, and congenital heart defects (review by Vergano and Deardorff, 2014). Mutations in the ARID1B gene are the most common cause of Coffin-Siris syndrome (Wieczorek et al., 2013). Genetic Heterogeneity of Coffin-Siris SyndromeForms of Coffin-Siris syndrome have been shown to be caused by mutations in genes encoding subunits of the SWI/SNF complex, also known as the BAF complex, which functions as a chromatin remodeling factor. These include CSS2 (OMIM ), caused by mutation in the ARID1A gene (OMIM ); CSS3 (OMIM ), caused by mutation in the SMARCB1 gene (OMIM ); CSS4 (OMIM ), caused by mutation in the SMARCA4 gene (OMIM ); CSS5 (OMIM ), caused by mutation in the SMARCE1 gene (OMIM ); CSS6 (OMIM ), caused by mutation in the ARID2 gene (OMIM ); and CSS7 (OMIM ), caused by mutation in the DPF2 gene (OMIM ).A similar phenotype, Nicolaides-Baraitser syndrome (NCBRS ), is also caused by mutation in a subunit of this complex, i.e., SMARCA2 (OMIM ).

COFFIN-SIRIS SYNDROME 1; CSS1 Is also known as fifth digit syndrome|coffin-siris syndrome|mrd12|css|mental retardation, autosomal dominant 12

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 1; CSS1

Medium match COSTELLO SYNDROME

Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.

COSTELLO SYNDROME Is also known as fcs syndrome|faciocutaneoskeletal syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COSTELLO SYNDROME

Top 5 symptoms//phenotypes associated to Myopia and Eczema

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Myopia and Eczema. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Growth delay Hernia High palate Hypertelorism Short stature Generalized hypotonia Hearing impairment Inguinal hernia Dry skin Downslanted palpebral fissures Intrauterine growth retardation Ptosis Hydrocephalus Recurrent infections Joint laxity Strabismus Muscular hypotonia Microcephaly Cryptorchidism Postnatal growth retardation Dilatation Delayed skeletal maturation Hypotrichosis Proptosis Pectus excavatum Kyphosis Hypoplasia of the corpus callosum Low-set ears Ventriculomegaly Astigmatism Brachydactyly Delayed speech and language development Failure to thrive Epicanthus Kyphoscoliosis Umbilical hernia Feeding difficulties Joint hypermobility Asthma Mitral valve prolapse Rectal prolapse Soft skin Feeding difficulties in infancy Aortic aneurysm Micrognathia Sacral dimple Cleft palate Hydronephrosis Atrial septal defect Low-set, posteriorly rotated ears Hypospadias Wide mouth Conjunctivitis Sparse scalp hair Posteriorly rotated ears Abnormality of the skeletal system Hyperkeratosis Frontal bossing Alopecia Depressed nasal bridge Neoplasm

Rare Symptoms - Less than 30% cases

Aortic root aneurysm Talipes equinovarus Arnold-Chiari malformation Severe short stature Recurrent respiratory infections Abnormality of cardiovascular system morphology Agenesis of corpus callosum Hyperextensibility of the finger joints Clinodactyly Submucous cleft hard palate Postaxial hand polydactyly Patent ductus arteriosus Clinodactyly of the 5th finger Cataract Abnormality of the dentition Respiratory insufficiency Respiratory distress Craniosynostosis Pectus carinatum Hemangioma Camptodactyly Cerebellar vermis hypoplasia Hip dysplasia Wide anterior fontanel Broad nasal tip High, narrow palate Hirsutism Pointed chin Bulbous nose Low anterior hairline Abnormality of the fingernails Hyperhidrosis Microretrognathia Attention deficit hyperactivity disorder Sparse hair Autistic behavior Protruding ear Spina bifida occulta Dysphagia Thin upper lip vermilion Osteopenia Gastroesophageal reflux Macrotia Delayed eruption of teeth Cerebellar hypoplasia Hypoplastic toenails Joint hyperflexibility Long philtrum Duodenal ulcer Cutis marmorata Short neck Anteverted nares Synophrys Spondylolisthesis Atrophic scars Developmental regression Vomiting Ectopia lentis Coarse facial features Abnormality of dental enamel Abnormality of the nervous system Apnea Hypoglycemia Hepatomegaly Abnormality of the hair Hypoplasia of dental enamel Inflammatory abnormality of the skin Choanal atresia Epidermal acanthosis Urticaria Wide nose Ventricular septal defect Macrocephaly Growth hormone deficiency Abnormality of the nail Photophobia Scarring Ichthyosis Retinal detachment Palmoplantar keratoderma Nail dysplasia Keratitis Ataxia Absent eyebrow Alopecia of scalp Blepharitis Follicular hyperkeratosis Corneal scarring Abnormal facial shape Ichthyosis follicularis Thick vermilion border Abnormal heart morphology Hypertension Long eyelashes Bruising susceptibility Blue sclerae Osteoarthritis Cerebral cortical atrophy Joint dislocation Motor delay Infantile muscular hypotonia Respiratory tract infection Hyperextensible skin Thick lower lip vermilion Pes planus Cognitive impairment Absent speech Hyperconvex fingernails Episcleritis Paronychia Coxa valga Renal insufficiency Cerebral atrophy Accelerated skeletal maturation Cerebral cortical hemiatrophy Abnormality of temperature regulation Hypoplasia of the bladder Scleritis Severe expressive language delay Increased body weight Thin fingernail Premature thelarche Abnormal pelvis bone morphology Pes cavus Generalized hirsutism Short distal phalanx of the 5th toe Abnormality of the upper urinary tract Lumbosacral hirsutism Hypoplastic fifth fingernail Oxycephaly Alopecia universalis Short distal phalanx of the 5th finger Cheilitis Cardiomyopathy Subcortical cerebral atrophy Dysarthria Prominent interphalangeal joints Abnormal nasolacrimal system morphology Unilateral chest hypoplasia Horseshoe kidney Edema Myopathy Intellectual disability, mild Short nose Tics Facial hypertrichosis Neoplasm of the liver Tall stature Aggressive behavior Abnormality of the pinna Short philtrum Short sternum Severe global developmental delay Confusion Thick eyebrow Hypertrichosis Short distal phalanx of finger Preauricular skin tag Small nail Renal hypoplasia Decreased fetal movement Congenital diaphragmatic hernia Recurrent hypoglycemia Single transverse palmar crease Intestinal malrotation Hypotelorism Dandy-Walker malformation Enlarged cisterna magna Short 5th finger Intussusception Aplasia/Hypoplasia of the patella Tetralogy of Fallot Ectopic posterior pituitary Hepatoblastoma Gastric ulcer Elevated alkaline phosphatase Generalized hypertrichosis Hypotrichosis of the scalp Anterior pituitary hypoplasia Abnormality of the head Patellar hypoplasia Dislocated radial head Pain Visual impairment Aplasia of the uterus Precocious puberty Anonychia Ectopic kidney Partial agenesis of the corpus callosum Behavioral abnormality Abnormality of digit Abdominal pain Arrhythmia Redundant skin Osteoporosis Broad philtrum Thin nail Large face Papilloma Bronchomalacia Fetal distress Limited elbow movement Abnormality of earlobe Schwannoma Broad femoral neck Rhabdomyosarcoma Pneumothorax Concave nail Hypoplasia of teeth Fasting hypoglycemia Abnormal mitral valve morphology Hematemesis Asymmetric septal hypertrophy Deep palmar crease Labial hypoplasia Redundant neck skin Abnormality of the testis Lack of skin elasticity Central apnea Verrucae Large forehead Achilles tendon contracture Thick upper lip vermilion Large earlobe Woolly hair Progeroid facial appearance Deep plantar creases Melena Megalencephaly Neonatal sepsis Systolic heart murmur Thickened Achilles tendon Congenital neuroblastoma Lymphangiectasis Alveolar rhabdomyosarcoma Tendon rupture Vitreomacular adhesion Myofiber disarray Enlarged cerebellum Macrocephaly at birth Loose anagen hair Cardiomyocyte hypertrophy Bladder carcinoma Choroid plexus papilloma Multifocal atrial tachycardia Triangular mouth Shyness Capillary malformation Bladder neoplasm Abnormal pulmonary valve morphology Ulnar deviation of the wrist Body odor Postprandial hyperglycemia Hypopnea Embryonal rhabdomyosarcoma Concentric hypertrophic cardiomyopathy Transitional cell carcinoma of the bladder Ganglioneuroblastoma Frontal hirsutism Vestibular Schwannoma Deep-set nails Barrel-shaped chest Fragile nails Hypogonadism Macroglossia Cafe-au-lait spot Hydrops fetalis Lymphedema Hyperpigmentation of the skin Decreased body weight Atrial fibrillation Apraxia Overgrowth Abnormality of the skin Webbed neck Premature birth Nevus Full cheeks Sepsis Tetraplegia Narrow palate Arthrogryposis multiplex congenita Respiratory failure Polyhydramnios Carcinoma Hypertrophic cardiomyopathy Intellectual disability, moderate Irritability Hypermetropia Ascites Pulmonic stenosis Delayed puberty Tachycardia Hematuria Sleep disturbance Postural instability Hoarse voice Short chin Thickened nuchal skin fold Reduced subcutaneous adipose tissue Microscopic hematuria Severe postnatal growth retardation Obstructive sleep apnea Neonatal hypoglycemia Arnold-Chiari type I malformation Syringomyelia Central hypotonia Tracheomalacia Generalized hyperpigmentation Ulnar deviation of finger Rhabdomyolysis Neuroblastoma Curly hair Keratoconus Neurodevelopmental delay Acanthosis nigricans Alopecia totalis Cutis laxa Abnormal dermatoglyphics Relative macrocephaly Laryngomalacia Poor suck Pyloric stenosis Failure to thrive in infancy Large for gestational age Pleural effusion Heart murmur Hyperglycemia Bilateral cryptorchidism Tricuspid regurgitation Rocker bottom foot Thin eyebrow Acute lymphoblastic leukemia Olivopontocerebellar atrophy Arterial rupture Prominent forehead Constipation Dystonia Cerebellar atrophy Tremor Membranous ventricular septal aneurysm Premature birth following premature rupture of fetal membranes Hyperextensibility of the knee Subcutaneous spheroids Hyperextensibility at elbow Bowel diverticulosis Irregularly spaced teeth Myxomatous mitral valve degeneration Anxiety Molluscoid pseudotumors Narrow maxilla Premature rupture of membranes Cigarette-paper scars Lop ear Eczematoid dermatitis Poor wound healing Bladder diverticulum Generalized joint laxity Varicose veins Periodontitis Aortic dissection Deeply set eye Abnormality of eye movement Fragile skin Short digit Broad forehead Skeletal dysplasia Retrognathia Malar flattening Abnormality of the septum pellucidum Talipes cavus equinovarus Prominent protruding coccyx Broad chin Thickened ears Prominent coccyx Caesarian section Sleep-wake cycle disturbance Toenail dysplasia Long face Nasolacrimal duct obstruction Thickened helices Gait imbalance Depressed nasal tip Aplasia cutis congenita Spastic diplegia Flat occiput Oral-pharyngeal dysphagia Chronic otitis media Prominent supraorbital ridges Delayed gross motor development Reduced tendon reflexes Hiatus hernia Recurrent urinary tract infections Facial asymmetry Scarring alopecia of scalp Acidosis Visual loss Splenomegaly Hypertonia Diarrhea Optic atrophy Spasticity Muscle weakness Sensorineural hearing impairment Perifollicular fibrosis Punctate keratitis Folliculitis Facial erythema Lethargy Entropion Dystrophic fingernails Ectropion Corneal dystrophy Sparse eyelashes Sparse and thin eyebrow Complete congenital stationary night blindness Congenital stationary night blindness Abnormal electroretinogram Nyctalopia Reduced visual acuity Blindness Skin rash Lactic acidosis Abnormality of the foot Hyperventilation Decreased biotinidase activity Perioral eczema Metabolic ketoacidosis Desquamation of skin soon after birth Laryngeal stridor Diffuse cerebellar atrophy Recurrent fungal infections Keratoconjunctivitis Alcoholism Seborrheic dermatitis Organic aciduria Diffuse cerebral atrophy Iris hypopigmentation Metabolic acidosis Bronchitis Basal ganglia calcification Infantile spasms Visual field defect Stridor Recurrent skin infections Hyperammonemia Tachypnea High myopia Aciduria Generalized myoclonic seizures Abnormal cerebellum morphology Coma Dolichocephaly Arachnodactyly Recurrent corneal erosions Nail dystrophy Renal dysplasia Aganglionic megacolon Omphalocele Abnormality of the ribs Oligohydramnios Specific learning disability Ectodermal dysplasia Brain atrophy Postaxial polydactyly Pulmonary hypoplasia Talipes Platyspondyly Papule Abnormal vertebral morphology Hip dislocation Corneal opacity Camptodactyly of finger Erythema Abnormality of the kidney Mental deterioration Polydactyly Dementia Microphthalmia Immunodeficiency Intellectual disability, severe Flexion contracture Hypohidrosis Multicystic kidney dysplasia Abnormality of female external genitalia Abnormality of the vertebral column Hypoplastic fingernail Heat intolerance Corneal erosion Abnormal eyelid morphology Absent eyelashes Abnormal eyelash morphology Parakeratosis Uveitis Oligodactyly Ectrodactyly Atonic seizures Congenital ichthyosiform erythroderma Absent septum pellucidum Hemivertebrae Mixed hearing impairment Hydroureter Intestinal obstruction Bifid scrotum Unilateral renal agenesis Erythroderma Psoriasiform dermatitis Scaling skin Abnormality of the hand Plagiocephaly Opacification of the corneal stroma Recurrent bacterial infections Abnormality of thumb phalanx Abnormality of neutrophils Thin vermilion border Narrow nose Cystic medial necrosis Ascending aortic dissection Long thorax Dural ectasia Unilateral ptosis Arterial tortuosity Thoracic aortic aneurysm Ascending tubular aorta aneurysm Dermal translucency Long toe Sagittal craniosynostosis High anterior hairline Scaphocephaly Pulmonary artery aneurysm Dilatation of the cerebral artery Rhinitis Abnormality of the sternum Disproportionate tall stature Hallux valgus Myopathic facies Bicuspid aortic valve Finger clinodactyly Joint contracture of the hand Exotropia Mitral regurgitation Bifid uvula Multiple suture craniosynostosis Descending thoracic aorta aneurysm Sparse lateral eyebrow Cutaneous photosensitivity Abnormality of the antihelix Hypoparathyroidism Anal stenosis Underdeveloped supraorbital ridges Aplasia/Hypoplasia of the thumb Delayed cranial suture closure Metatarsus adductus Aplasia/Hypoplasia of the corpus callosum Sandal gap Narrow face Chronic diarrhea Broad thumb Fine hair Generalized arterial tortuosity Sloping forehead Lymphoma Short foot Small hand Abnormality of skin pigmentation Malabsorption Toe syndactyly Blepharophimosis Telecanthus Thrombocytopenia Anemia Biconvex vertebral bodies Bicuspid pulmonary valve Increased corneal curvature


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