Myopia, and Postaxial hand polydactyly

Diseases related with Myopia and Postaxial hand polydactyly

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


Top matches:

Medium match BARDET-BIEDL SYNDROME 21; BBS21


BBS21 is an autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment (Heon et al., 2016; Khan et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Cognitive impairment
  • Delayed speech and language development
  • Myopia
  • Blindness
  • Abnormality of the dentition


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 21; BBS21

Medium match BARDET-BIEDL SYNDROME 1; BBS1


Bardet-Biedl syndrome is an autosomal recessive and genetically heterogeneous ciliopathy characterized by retinitis pigmentosa, obesity, kidney dysfunction, polydactyly, behavioral dysfunction, and hypogonadism (summary by Beales et al., 1999). Eight proteins implicated in the disorder assemble to form the BBSome, a stable complex involved in signaling receptor trafficking to and from cilia (summary by Scheidecker et al., 2014). Genetic Heterogeneity of Bardet-Biedl SyndromeBBS1 is caused by mutation in a gene on chromosome 11q13 (OMIM ); BBS2 (OMIM ), by mutation in a gene on 16q13 (OMIM ); BBS3 (OMIM ), by mutation in the ARL6 gene on 3q11 (OMIM ); BBS4 (OMIM ), by mutation in a gene on 15q22 (OMIM ); BBS5 (OMIM ), by mutation in a gene on 2q31 (OMIM ); BBS6 (OMIM ), by the MKKS gene on 20p12 (OMIM ), mutations in which also cause McKusick-Kaufman syndrome (OMIM ); BBS7 (OMIM ), by mutation in a gene on 4q27 (OMIM ); BBS8 (OMIM ), by mutation in the TTC8 gene on 14q32 (OMIM ); BBS9 (OMIM ), by mutation in a gene on 7p14 (OMIM ); BBS10 (OMIM ), by mutation in a gene on 12q (OMIM ); BBS11 (OMIM ), by mutation in the TRIM32 gene on 9q33 (OMIM ); BBS12 (OMIM ), by mutation in a gene on 4q27 (OMIM ); BBS13 (OMIM ), by mutation in the MKS1 gene (OMIM ) on 17q23, mutations in which also cause Meckel syndrome-1 (OMIM ); BBS14 (OMIM ), by mutation in the CEP290 gene (OMIM ) on 12q21, mutations in which also cause Meckel syndrome-4 (OMIM ) and several other disorders; BBS15 (OMIM ), by mutation in the C2ORF86 gene (OMIM ), which encodes a homolog of the Drosophila planar cell polarity gene 'fritz,' on 2p15; BBS16 (OMIM ), by mutation in the SDCCAG8 gene (OMIM ) on 1q43, mutations in which also cause Senior-Loken syndrome-7 (OMIM ); BBS17 (OMIM ), by mutation in the LZTFL1 gene (OMIM ) on 3p21; BBS18 (OMIM ), by mutation in the BBIP1 gene (OMIM ) on 10q25; BBS19 (OMIM ), by mutation in the IFT27 gene (OMIM ) on 22q12; BBS20 (OMIM ), by mutation in the IFT74 gene (OMIM ) on 9p21; and BBS21 (OMIM ), by mutation in the C8ORF37 gene (OMIM ).The CCDC28B gene (OMIM ) modifies the expression of BBS phenotypes in patients who have mutations in other genes. Mutations in MKS1, MKS3 (TMEM67 ), and C2ORF86 also modify the expression of BBS phenotypes in patients who have mutations in other genes.Although BBS had originally been thought to be a recessive disorder, Katsanis et al. (2001) demonstrated that clinical manifestation of some forms of Bardet-Biedl syndrome requires recessive mutations in 1 of the 6 loci plus an additional mutation in a second locus. While Katsanis et al. (2001) called this 'triallelic inheritance,' Burghes et al. (2001) suggested the term 'recessive inheritance with a modifier of penetrance.' Mykytyn et al. (2002) found no evidence of involvement of the common BBS1 mutation in triallelic inheritance. However, Fan et al. (2004) found heterozygosity in a mutation of the BBS3 gene ({608845.0002}) as an apparent modifier of the expression of homozygosity of the met390-to-arg mutation in the BBS1 gene ({209901.0001}).Allelic disorders include nonsyndromic forms of retinitis pigmentosa: RP51 (OMIM ), caused by TTC8 mutation, and RP55 (OMIM ), caused by ARL6 mutation.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 1; BBS1

Medium match ACROCEPHALOPOLYDACTYLOUS DYSPLASIA


Acrocephalopolydactylous dysplasia, or Elejalde syndrome, is a lethal multiple congenital disorder characterized by increased birth weight, globular body with thick skin, organomegaly, and fibrosis in multiple tissues (summary by Phadke et al., 2011).

ACROCEPHALOPOLYDACTYLOUS DYSPLASIA Is also known as elejalde syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about ACROCEPHALOPOLYDACTYLOUS DYSPLASIA

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Other less relevant matches:

Medium match LOEYS-DIETZ SYNDROME 1; LDS1


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 ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA 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

Medium match CONE-ROD DYSTROPHY 16; CORD16


Cone-rod dystrophy (CORD) and retinitis pigmentosa (RP) are clinically and genetically overlapping heterogeneous retinal dystrophies. RP is characterized initially by rod photoreceptor dysfunction, giving rise to night blindness, which is followed by progressive rod and cone photoreceptor dystrophy, resulting in midperipheral vision loss, tunnel vision, and sometimes blindness. In contrast to RP, CORD is characterized by a primary loss of cone photoreceptors and subsequent or simultaneous loss of rod photoreceptors. The disease in most cases becomes apparent during primary-school years, and symptoms include photoaversion, decrease in visual acuity with or without nystagmus, color vision defects, and decreased sensitivity of the central visual field. Because rods are also involved, night blindness and peripheral vision loss can occur. The diagnosis of CORD is mainly based on electroretinogram (ERG) recordings, in which cone responses are more severely reduced than, or equally as reduced as rod responses (summary by Estrada-Cuzcano et al., 2012).

CONE-ROD DYSTROPHY 16; CORD16 Is also known as retinal dystrophy with early macular involvement

Related symptoms:

  • Nystagmus
  • Cataract
  • Visual impairment
  • Myopia
  • Blindness


SOURCES: OMIM MENDELIAN

More info about CONE-ROD DYSTROPHY 16; CORD16

Medium match MARFAN SYNDROME TYPE 1


MARFAN SYNDROME TYPE 1 Is also known as aortic aneurysm, familial thoracic 3|marfan syndrome, type ii, formerly|mfs1|aat3

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MARFAN SYNDROME TYPE 1

Medium match X-LINKED FEMALE RESTRICTED FACIAL DYSMORPHISM-SHORT STATURE-CHOANAL ATRESIA-INTELLECTUAL DISABILITY


Female-restricted X-linked syndromic mental retardation-99 is an X-linked dominant neurodevelopmental disorder characterized by delayed psychomotor development and mild to moderate intellectual disability. Affected females can have a wide range of additional congenital anomalies, including scoliosis, postaxial polydactyly, mild cardiac or urogenital anomalies, dysmorphic facial features, and mild structural brain abnormalities (summary by Reijnders et al., 2016).

X-LINKED FEMALE RESTRICTED FACIAL DYSMORPHISM-SHORT STATURE-CHOANAL ATRESIA-INTELLECTUAL DISABILITY Is also known as x-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED FEMALE RESTRICTED FACIAL DYSMORPHISM-SHORT STATURE-CHOANAL ATRESIA-INTELLECTUAL DISABILITY

Medium match MICROPHTHALMIA WITH BRAIN AND DIGIT ANOMALIES


Microphthalmia with brain and digit anomalies is characterised by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development.

MICROPHTHALMIA WITH BRAIN AND DIGIT ANOMALIES Is also known as microphthalmia and pituitary anomalies|microphthalmia with brain and digit developmental anomalies|syndromic microphthalmia type 6|anophthalmia, clinical, with micrognathia, malformed ears, digital anomalies, and abnormal external genitalia|bakrania-ragge

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MICROPHTHALMIA WITH BRAIN AND DIGIT ANOMALIES

Medium match JOUBERT SYNDROME WITH JEUNE ASPHYXIATING THORACIC DYSTROPHY


Joubert syndrome with Jeune asphyxiating thoracic dystrophy (JATD) is an extremely rare genetic bone disorder characterized by the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia,cognitive impairment, and abnormal eyemovements), associated with the skeletal anomalies found in JATD including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs, and metaphyseal changes.

JOUBERT SYNDROME WITH JEUNE ASPHYXIATING THORACIC DYSTROPHY Is also known as jbts with jatd|joubert syndrome with jatd

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about JOUBERT SYNDROME WITH JEUNE ASPHYXIATING THORACIC DYSTROPHY

Top 5 symptoms//phenotypes associated to Myopia and Postaxial hand polydactyly

Symptoms // Phenotype % cases
Postaxial polydactyly Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Polydactyly Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Cleft palate Uncommon - Between 30% and 50% cases
Mendelian

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Other less frequent symptoms

Patients with Myopia and Postaxial hand polydactyly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Retinal dystrophy Nystagmus Brachydactyly Cerebellar hypoplasia Scoliosis Cataract High palate Hearing impairment Bifid uvula Frontal bossing Micrognathia Craniosynostosis Recurrent respiratory infections Ventriculomegaly Seizures Hypertelorism Low-set ears Renal dysplasia Short stature Hypospadias Astigmatism Retrognathia Posteriorly rotated ears Specific learning disability Patent ductus arteriosus Dilatation Hernia Delayed speech and language development Failure to thrive Malar flattening Muscular hypotonia Atrial septal defect Bicuspid aortic valve Feeding difficulties Camptodactyly Joint laxity Generalized hypotonia Facial asymmetry Obesity Strabismus Cryptorchidism Retinal degeneration Rod-cone dystrophy High myopia Blindness

Rare Symptoms - Less than 30% cases


Renal hypoplasia Microcephaly Subcortical cerebral atrophy Oxycephaly Absent speech Growth delay Myopathic facies Disproportionate tall stature Spondylolisthesis Respiratory distress Hypoplasia of the corpus callosum Dilatation of the cerebral artery Inguinal hernia Hemivertebrae Multicystic kidney dysplasia Cerebral cortical hemiatrophy High anterior hairline Anal atresia Microphthalmia Low-set, posteriorly rotated ears Pulmonary hypoplasia Agenesis of corpus callosum Omphalocele Aortic aneurysm Generalized arterial tortuosity Bicuspid pulmonary valve Dandy-Walker malformation Broad forehead Pectus carinatum Arachnodactyly Depressed nasal bridge Arterial tortuosity Pes planus Dural ectasia Eczema Pes cavus Proptosis Mitral valve prolapse Clinodactyly of the 5th finger Blue sclerae Ascending aortic dissection Dolichocephaly Thoracic aortic aneurysm Exotropia Joint contracture of the hand Hydrocephalus Talipes equinovarus Ascending tubular aorta aneurysm Abnormality of the skeletal system Dermal translucency Microretrognathia Arnold-Chiari malformation Ectopia lentis Pulmonary artery aneurysm Descending thoracic aorta aneurysm Downslanted palpebral fissures Hydronephrosis Cerebral cortical atrophy Bifid scrotum Plagiocephaly Syndactyly Micropenis Reduced visual acuity Abnormality of the kidney Foot polydactyly Nail dysplasia Coloboma Macular dystrophy Ataxia Visual loss Choanal atresia Abnormal vertebral morphology Hepatic fibrosis Dental crowding Iris coloboma Aganglionic megacolon Short foot Visual impairment Renal insufficiency Absent septum pellucidum Epicanthus Abnormality of the dentition Macrotia Umbilical hernia Elevated hepatic transaminase Photophobia Brachycephaly Hypodontia Hip dislocation Cone/cone-rod dystrophy Abnormal facial shape Constriction of peripheral visual field Asthma Wide nasal bridge Alopecia totalis Hypoplastic fingernail Hyperconvex fingernails Recurrent corneal erosions Olivopontocerebellar atrophy Heat intolerance Follicular hyperkeratosis Abnormality of temperature regulation Abnormal nasolacrimal system morphology Corneal erosion Abnormal eyelid morphology Abnormality of the upper urinary tract Cheilitis Thin eyebrow Absent eyelashes Long philtrum Alopecia universalis Corneal scarring Abnormal pelvis bone morphology Episcleritis Chest pain Aortic dissection Subcapsular cataract Peripheral visual field loss Striae distensae Attenuation of retinal blood vessels Bone spicule pigmentation of the retina Narrow palate Chorioretinal degeneration Protrusio acetabuli Temporal optic disc pallor Beaten bronze macular sheen Pain Recurrent fractures Joint hypermobility Abnormal cardiac septum morphology Osteoporosis Macular atrophy Abnormality of color vision Paronychia Unilateral chest hypoplasia Hypoplasia of the bladder Scleritis Thin fingernail Pectus excavatum Ichthyosis follicularis Spontaneous pneumothorax Absent distal phalanges Pallor Glucose intolerance Nyctalopia Mild myopia Abnormality of skin pigmentation Progressive visual loss Optic disc pallor Hyperlipidemia Hand polydactyly Prominent forehead Cognitive impairment Thin upper lip vermilion Cone-shaped epiphysis Chronic lung disease Enlarged cisterna magna Meningocele Bell-shaped thorax Occipital encephalocele Molar tooth sign on MRI Thoracic hypoplasia Supernumerary nipple Overfolded helix Increased intracranial pressure Redundant neck skin Tachypnea Oculomotor apraxia Short ribs Cerebellar vermis hypoplasia Wide intermamillary distance Abnormal cerebellum morphology Apnea Gastroesophageal reflux Aplasia of the optic tract Small sella turcica Dilation of lateral ventricles Colpocephaly Small scrotum Dysgenesis of the cerebellar vermis Abnormality of the 5th metacarpal Twelfth rib hypoplasia Early ossification of capital femoral epiphyses Rhizomelic leg shortening Open operculum Subretinal deposits Small cervical vertebral bodies Rhizomelic arm shortening Dilated third ventricle Cervical spinal canal stenosis Abnormality of the acetabulum Abnormality of the basal ganglia Proximal femoral metaphyseal irregularity Elongated superior cerebellar peduncle Short digit Renal cortical cysts Duane anomaly Abnormality of the optic disc Recurrent aspiration pneumonia Long clavicles Hyperechogenic kidneys Abnormal corpus callosum morphology Flexion contracture of thumb Uplifted earlobe Hypermetropia Blepharitis Hypothyroidism Midface retrusion Sensorineural hearing impairment Unilateral breast hypoplasia Abnormality of thyroid physiology Flared nostrils Lower limb asymmetry Abnormal cortical gyration Abnormality of the genitourinary system Sacral dimple Protruding ear Hypertrichosis Short palpebral fissure Hypotelorism Narrow forehead Hip dysplasia Prominent nose Tapered finger Small hand Bulbous nose Smooth philtrum High forehead Finger syndactyly Orbital cyst Adrenal hypoplasia Inferior vermis hypoplasia Female hypogonadism Abnormality of the cervical spine Anterior pituitary hypoplasia Lambdoidal craniosynostosis Anterior hypopituitarism Abnormality of the hypothalamus-pituitary axis Delayed CNS myelination Sclerocornea Microglossia Postaxial foot polydactyly Toe syndactyly Broad palm Short middle phalanx of finger Preaxial hand polydactyly Anophthalmia Proximal placement of thumb Chorioretinal coloboma Aplasia/Hypoplasia of the corpus callosum Severe muscular hypotonia Microcornea Single transverse palmar crease Abnormal eyelash morphology Recurrent infections Alopecia of scalp Edema Abnormality of the pinna Rigidity Polyhydramnios Respiratory failure Upslanted palpebral fissure Abnormality of cardiovascular system morphology Short nose Short neck Hypopigmentation of the skin Tremor Optic atrophy Hepatomegaly Spasticity Septate vagina Hydrometrocolpos Nephrogenic diabetes insipidus Biliary tract abnormality Micromelia Ascites Tapetoretinal degeneration Protuberant abdomen Pancreatic fibrosis Abnormality of the cerebellar vermis Lymphangioma Cystic renal dysplasia Rib fusion Polysplenia Broad neck Enlarged kidney Generalized hyperpigmentation Limb undergrowth Cystic hygroma Premature graying of hair Redundant skin Muscle stiffness Hydrops fetalis Thickened skin Abnormality of the face Depressed nasal ridge Microphallus Menstrual irregularities Hypoplasia of the small intestine Hypogonadism Stage 5 chronic kidney disease Paraplegia Pulmonic stenosis Neurological speech impairment Retinopathy Glaucoma Diabetes mellitus Macrocephaly High, narrow palate Hypertension Hyperautofluorescent macular lesion Reduced amplitude of dark-adapted bright flash electroretinogram a-wave Retinal thinning Hypoplasia of the fovea Retinal atrophy Chorioretinal atrophy Horseshoe kidney Hirsutism Decreased testicular size Vaginal atresia Hypoplasia of the uterus Abnormality of the ovary Gait imbalance Undetectable electroretinogram Broad foot Poor coordination Nephronophthisis Truncal obesity External genital hypoplasia Tricuspid regurgitation Amenorrhea Radial deviation of finger Clubbing Anosmia Situs inversus totalis Left ventricular hypertrophy Abnormality of the genital system Primary amenorrhea Pigmentary retinopathy Aplasia/Hypoplasia of the macula Hypoplastic colon Parakeratosis Ectodermal dysplasia Abnormality of the nail Abnormality of the hair Hypohidrosis Hypoplasia of dental enamel Epidermal acanthosis Abnormality of the ribs Oligohydramnios Brain atrophy Conjunctivitis Palmoplantar keratoderma Ichthyosis Dry skin Talipes Hypotrichosis Platyspondyly Nail dystrophy Papule Recurrent bacterial infections Abnormality of dental enamel Camptodactyly of finger Hydroureter Uveitis Submucous cleft hard palate Oligodactyly Ectrodactyly Atonic seizures Congenital ichthyosiform erythroderma Abnormality of the vertebral column Mixed hearing impairment Absent eyebrow Opacification of the corneal stroma Keratitis Intestinal obstruction Unilateral renal agenesis Erythroderma Psoriasiform dermatitis Scaling skin Urticaria Abnormality of the hand Corneal opacity Scarring Extrapulmonary sequestrum Joint dislocation Soft skin Scaphocephaly Rhinitis Aortic root aneurysm Abnormality of the sternum Atrophic scars Hallux valgus Finger clinodactyly Sagittal craniosynostosis Mitral regurgitation Osteoarthritis Bruising susceptibility Thin vermilion border Skeletal dysplasia Kyphoscoliosis Clinodactyly Ptosis Narrow nose Long toe Erythema Delayed skeletal maturation Respiratory tract infection Developmental regression Mental deterioration Hyperkeratosis Hyperhidrosis Dementia Severe short stature Alopecia Immunodeficiency Unilateral ptosis Kyphosis Intellectual disability, severe Intrauterine growth retardation Flexion contracture Biconvex vertebral bodies Multiple suture craniosynostosis Cystic medial necrosis Long thorax Aplasia/Hypoplasia involving bones of the thorax



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