Cataract, and Craniosynostosis

Diseases related with Cataract and Craniosynostosis

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


Top matches:

Low match CATARACT 36; CTRCT36


CATARACT 36; CTRCT36 Is also known as cataract, autosomal recessive congenital 4|catc4

Related symptoms:

  • Cataract


SOURCES: OMIM MENDELIAN

More info about CATARACT 36; CTRCT36

Low match HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME


Hereditary hyperferritinemia with congenital cataracts is characterized by the association of early onset (although generally absent at birth) cataract with persistently raised plasma ferritin concentrations in the absence of iron overload.

HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME Is also known as hereditary hyperferritinemia with congenital cataracts|bonneau-beaumont syndrome|hhcs

Related symptoms:

  • Cataract
  • Abnormality of metabolism/homeostasis


SOURCES: ORPHANET MENDELIAN

More info about HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME

Low match CAMPTODACTYLY-TALL STATURE-SCOLIOSIS-HEARING LOSS SYNDROME


Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterised by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth.

CAMPTODACTYLY-TALL STATURE-SCOLIOSIS-HEARING LOSS SYNDROME Is also known as catshl syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CAMPTODACTYLY-TALL STATURE-SCOLIOSIS-HEARING LOSS SYNDROME

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Other less relevant matches:

Low match CURRY-JONES SYNDROME


Curry-Jones syndrome is a form of syndromic craniosynostosis characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported.

CURRY-JONES SYNDROME Is also known as corpus callosum agenesis-polysyndactyly syndrome|craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CURRY-JONES SYNDROME

Low match CRANIOSYNOSTOSIS 7; CRS7


Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013).For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM ).

CRANIOSYNOSTOSIS 7; CRS7 Is also known as crs7, digenic|craniosynostosis 7, digenic

Related symptoms:

  • Delayed speech and language development
  • Craniosynostosis


SOURCES: OMIM MENDELIAN

More info about CRANIOSYNOSTOSIS 7; CRS7

Low match BRANCHIOSKELETOGENITAL SYNDROME


Branchioskeletogenital syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability, distinctive craniofacial features (including brachycephaly, facial asymmetry, marked hypertelorism, blepharochalasis, proptosis, a broad nose with concave nasal ridge and bulbous nasal tip, midface hypoplasia, bifid uvula or partial cleft palate, and prognathism), progressive dental anomalies (dentigerous cysts, radicular dentin dysplasia and early tooth loss), vertebral fusions (particularly of C2-C3), and hypospadias. Hearing loss is an additional observed feature.

BRANCHIOSKELETOGENITAL SYNDROME Is also known as hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss|elsahy-waters syndrome|brachioskeletogenital syndrome|bsg syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about BRANCHIOSKELETOGENITAL SYNDROME

Low match PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME


Progeroid and marfanoid aspect-lipodystrophy syndrome is a rare systemic disease characterized by a neonatal progeroid appearance (not associated with other manifestations of premature aging) associated with facial dysmorphism (e.g. macrocephaly or arrested hydrocephaly, proptosis, downslanting palpebral fissures, retrognathia), generalized, extreme, congenital lack of subcutaneous fat tissue (except in the breast and iliac region) and incomplete signs of Marfan syndrome (mainly severe myopia, joint hyperextensibility and arachnodactyly). Metabolic disturbances are not associated.

PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME Is also known as marfanoid-progeroid syndrome|marfan-progeroid-lipodystrophy syndrome

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Abnormal facial shape
  • Hypertension
  • Myopia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME

Low 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

Low match LOEYS-DIETZ SYNDROME


Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum.

LOEYS-DIETZ SYNDROME Is also known as aortic aneurysm syndrome due to tgf-beta receptors anomalies|aneurysm, aortic and cerebral, with arterial tortuosity and skeletal manifestations

Related symptoms:

  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • High palate
  • Downslanted palpebral fissures


SOURCES: OMIM ORPHANET MENDELIAN

More info about LOEYS-DIETZ SYNDROME

Top 5 symptoms//phenotypes associated to Cataract and Craniosynostosis

Symptoms // Phenotype % cases
Global developmental delay Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
High palate Uncommon - Between 30% and 50% cases
Pectus excavatum Uncommon - Between 30% and 50% cases
Tall stature Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cataract and Craniosynostosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Retrognathia Bifid uvula Malar flattening Facial asymmetry Coloboma Brachycephaly Hypertelorism Ectopia lentis Downslanted palpebral fissures High myopia Myopia Scoliosis Hearing impairment Arachnodactyly Intellectual disability

Rare Symptoms - Less than 30% cases


Proptosis Seizures Abnormal facial shape Cryptorchidism Growth delay Dilatation Midface retrusion Hypospadias Micropenis High forehead Pes planus Pectus carinatum Preaxial hand polydactyly Micrognathia Bifid scrotum Dural ectasia Aortic root aneurysm Aortic aneurysm Abnormality of the cervical spine Mitral valve prolapse Bruising susceptibility Foot polydactyly Posteriorly rotated ears Failure to thrive Iris coloboma Microphthalmia Syndactyly Ventriculomegaly Agenesis of corpus callosum Polydactyly Nystagmus Finger syndactyly Toe syndactyly Camptodactyly of finger Sensorineural hearing impairment Microcornea Prominent nasal bridge Macrocephaly Prominent forehead Narrow palm Prominent scalp veins Arterial tortuosity Generalized hypotonia Striae distensae Hydrocephalus Muscular hypotonia Hyperextensibility of the finger joints Cleft palate Low-set ears Brachydactyly Intrauterine growth retardation Hypertension Blindness Absent speech Clinodactyly of the 5th finger Cerebellar hypoplasia Pes valgus Entropion Gastroesophageal reflux Relative macrocephaly Spondylolisthesis Aortic dissection High, narrow palate Premature birth Atypical scarring of skin Oligohydramnios Increased body weight Cutis laxa Dilatation of the cerebral artery Arthrogryposis multiplex congenita Lipodystrophy Subarachnoid hemorrhage Reduced subcutaneous adipose tissue Pneumothorax Hypothyroidism Scaphocephaly Severe intrauterine growth retardation Narrow nose Progeroid facial appearance Cerebral cortical atrophy Cardiac arrest Macrotia Flexion contracture of thumb Abnormality of the hypothalamus-pituitary axis Anterior hypopituitarism Lambdoidal craniosynostosis Anterior pituitary hypoplasia Female hypogonadism Inferior vermis hypoplasia Orbital cyst Uplifted earlobe Small scrotum Small sella turcica Delayed CNS myelination Aplasia of the optic tract Talipes equinovarus Patent ductus arteriosus Inguinal hernia Joint laxity Dolichocephaly Joint hyperflexibility Oral cleft Abnormal bleeding Blue sclerae Joint dislocation Bicuspid aortic valve Protruding ear Chorioretinal coloboma Postaxial polydactyly Retinal dystrophy Thin skin Nail dysplasia Renal hypoplasia Abnormal vertebral morphology Microretrognathia Severe muscular hypotonia Plagiocephaly Aplasia/Hypoplasia of the corpus callosum Proximal placement of thumb Sclerocornea Arterial dissection Anophthalmia Thoracic aortic aneurysm Abnormality of the sternum Emphysema Short middle phalanx of finger Broad palm Postaxial foot polydactyly Adrenal hypoplasia Microglossia Single transverse palmar crease Prominent nasal tip Amelia involving the lower limbs Strabismus Arnold-Chiari type I malformation Chronic constipation Optic nerve coloboma Medulloblastoma Anterior plagiocephaly Cutaneous syndactyly of toes Hemimegalencephaly Duplication of thumb phalanx Abnormality of thumb phalanx Delayed speech and language development Depressed nasal bridge Cutaneous finger syndactyly Wide nasal bridge Anteverted nares Short neck Abnormality of the dentition Recurrent infections Glaucoma Mandibular prognathia Umbilical hernia Thin upper lip vermilion Telecanthus Intellectual disability, moderate Anal stenosis Aplasia/Hypoplasia of the skin Short philtrum Carcinoma Camptodactyly Bilateral sensorineural hearing impairment Interphalangeal joint contracture of finger Joint contracture of the hand Camptodactyly of toe Osteochondroma Increased vertebral height Abnormality of lower limb joint Broad femoral metaphyses Ptosis Blepharophimosis Basal cell carcinoma Polymicrogyria Hirsutism Intestinal malrotation Abnormality of the skin Broad thumb Horizontal nystagmus Generalized hirsutism Narrow palpebral fissure Hypopigmented skin patches Bilateral ptosis Preaxial polydactyly Low-set, posteriorly rotated ears Broad forehead Advanced pneumatization of the mastoid process Submucous cleft soft palate Cleft soft palate Absent nipple Abnormality of metabolism/homeostasis Bladder exstrophy Ureteral stenosis Penoscrotal hypospadias Thoracolumbar kyphoscoliosis Multiple impacted teeth Phthisis bulbi Periorbital wrinkles Attached earlobe Large earlobe Absent external genitalia Dentinogenesis imperfecta limited to primary teeth Abnormality of the sella turcica Blepharochalasis Rootless teeth Unilateral cleft palate Abnormality of the vertebral spinous processes Abnormality of dentin Abnormality of the shape of the midface Lagopthalmos Upper limb peromelia Concave nasal ridge Eyelid coloboma Carious teeth Dental malocclusion Synophrys Thin vermilion border Flat face Thick eyebrow Wide nose Downturned corners of mouth Thick vermilion border Highly arched eyebrow Delayed eruption of teeth Hypoplasia of the maxilla Broad nasal tip Wide intermamillary distance Thoracolumbar scoliosis Narrow forehead Pointed chin Cutaneous syndactyly Keratitis Mixed hearing impairment Abnormality of the vertebral column Thickened calvaria Anteriorly placed anus Submucous cleft hard palate Premature loss of teeth Megalocornea Uterine rupture



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