Cataract, and Toe syndactyly

Diseases related with Cataract and Toe syndactyly

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

Top matches:

Nevus comedonicus (NC) is a rare type of epidermal nevus with predilection for the face and neck area. The condition develops within the first decade of life in most patients. NC is characterized by dilated, plugged follicular ostia containing lamellar keratinaceous material and grouped in a honeycomb pattern; the distribution of lesions may be unilateral, bilateral, linear, interrupted, segmental, or along the lines of Blaschko. NC may be nonpyogenic with an acne-like appearance or associated with the formation of cysts, papules, pustules, and abscesses. Histologically, the lesions are large, grouped, dilated follicular ostia devoid of hair shafts but filled with keratin layers (summary by Tchernev et al., 2013).

Related symptoms:

  • Seizures
  • Microcephaly
  • Scoliosis
  • Cataract
  • Alopecia


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEVUS COMEDONICUS SYNDROME

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

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

Other less relevant matches:

2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.

2Q24 MICRODELETION SYNDROME Is also known as monosomy 2q24|del(2)(q24)

Related symptoms:

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


SOURCES: ORPHANET MESH MENDELIAN

More info about 2Q24 MICRODELETION SYNDROME

Squalene synthase deficiency is an autosomal recessive disorder characterized by profound developmental delay, brain abnormalities, 2/3 syndactyly of the toes, and facial dysmorphisms, as well as low total and LDL-cholesterol and abnormal urine organic acids (Coman et al., 2018). Squalene synthase deficiency has been reported in 3 patients from 2 families.

SQUALENE SYNTHASE DEFICIENCY; SQSD Is also known as neurodevelopmental disorder with low cholesterol and abnormal urine organic acids

Related symptoms:

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Micrognathia
  • Cataract


SOURCES: OMIM MENDELIAN

More info about SQUALENE SYNTHASE DEFICIENCY; SQSD

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

OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE Is also known as odod, autosomal recessive|oculodentoosseous dysplasia, autosomal recessive|oddd, autosomal recessive

Related symptoms:

  • Global developmental delay
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Cataract


SOURCES: OMIM MESH MENDELIAN

More info about OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE

Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement.

SEVERE GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA Is also known as rdeb, hallopeau-siemens type|severe generalized rdeb|dystrophic epidermolysis bullosa, autosomal recessive|rdeb generalisata gravis|epidermolysis bullosa dystrophica, hallopeau-siemens type|rdeb-sev gen|autosomal recessive dystrophic epidermolysis bullosa

Related symptoms:

  • Growth delay
  • Neoplasm
  • Cataract
  • Anemia
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA

Scalp-ear-nipple syndrome is characterised by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Thirty cases have been described so far. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant.

SCALP-EAR-NIPPLE SYNDROME Is also known as finlay-marks syndrome|sen syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape
  • Cataract
  • Low-set ears


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SCALP-EAR-NIPPLE SYNDROME

Top 5 symptoms//phenotypes associated to Cataract and Toe syndactyly

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Syndactyly Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Finger syndactyly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Microcephaly Epicanthus Myopia Microphthalmia Micrognathia Coloboma

Rare Symptoms - Less than 30% cases

Narrow mouth Telecanthus Low-set, posteriorly rotated ears Cutaneous syndactyly of toes Abnormality of the dentition Short stature Low-set ears Narrow palpebral fissure Nail dystrophy Cryptorchidism Depressed nasal bridge Nail dysplasia Hypospadias Polymicrogyria Retrognathia Downslanted palpebral fissures Cleft palate Preaxial polydactyly Alopecia Scarring 2-3 toe syndactyly Brachycephaly Carcinoma Fine hair Abnormality of the hair Hypertelorism Blepharophimosis Hypotelorism Dry skin Delayed eruption of teeth Growth delay Abnormality of the skin Iris coloboma Microcornea Ectropion Atypical scarring of skin Milia Blepharitis Joint contracture of the hand Malnutrition Skin vesicle Conjunctivitis Fragile skin Neoplasm of the skin Dermal atrophy Atrophic scars Squamous cell carcinoma Hypoalbuminemia Osteopenia Hypoplasia of dental enamel Neoplasm Narrow nose Spinal cord compression Mild global developmental delay Large earlobe Hypoplasia of teeth Cranial hyperostosis Broad long bones Persistent pupillary membrane Macrodontia of permanent maxillary central incisor Fifth finger distal phalanx clinodactyly 4-5 finger syndactyly 2-4 toe cutaneous syndactyly Anemia Abnormal blistering of the skin Flexion contracture Dysphagia Cardiomyopathy Visual loss Constipation Osteoporosis Squamous cell carcinoma of the skin Dilated cardiomyopathy Pruritus Carious teeth Delayed puberty Progressive visual loss Corneal erosion Abnormal facial shape Ankyloglossia Abnormality of the endocrine system Cutaneous syndactyly Abnormality of the urinary system Abnormality of the thorax Cupped ear Agenesis of permanent teeth Multiple lipomas Narrow nasal bridge Aplasia cutis congenita Hypoplastic nipples Palpebral edema Short columella Abnormality of the antihelix Eyelid coloboma Aplasia/Hypoplasia of the nipples Type I diabetes mellitus Absent nipple Ureteral duplication Pyelonephritis Aplasia cutis congenita of scalp Small earlobe Breast aplasia Bilateral renal hypoplasia Hypoplastic helices Bilateral camptodactyly Underdeveloped tragus 3-4 finger cutaneous syndactyly Underdeveloped antitragus Abnormality of the scalp Abnormality of the fingernails Abnormality of the nail Esophageal stricture Anteverted nares Corneal scarring Scarring alopecia of scalp Absent toenail Abnormality of the anus Absent fingernail Refractory anemia Loss of eyelashes Esophageal stenosis Mitten deformity Spontaneous esophageal perforation Generalized hypotonia Long nose Hypertension Renal insufficiency Hypohidrosis Hyperhidrosis Mandibular prognathia Camptodactyly Abnormality of the kidney Abnormality of the pinna Protruding ear Sparse hair Microtia Congenital cataract Vesicoureteral reflux Renal agenesis Renal hypoplasia Recurrent urinary tract infections Basal ganglia calcification Clinodactyly Hyperostosis Cerebral visual impairment Small face Hand clenching Abnormal oral frenulum morphology Abnormality iris morphology Bullet-shaped distal phalanx of the hallux Visual impairment Hypoplasia of the corpus callosum Posteriorly rotated ears Macrotia Irritability Cutaneous photosensitivity Bicuspid aortic valve Long fingers Optic nerve hypoplasia Bilateral cryptorchidism Profound global developmental delay High palate Feeding difficulties Motor delay Intrauterine growth retardation Ventricular septal defect Micropenis Gait ataxia Autism Central apnea Interphalangeal joint contracture of finger Rhizomelia Pustule Scoliosis Papule Abnormality of the foot Ichthyosis Nevus Epidermal acanthosis Abnormal vertebral morphology Spina bifida Spina bifida occulta Acne Hamartoma Nevus flammeus Arachnodactyly Epidermal nevus Comedo Abnormality of metabolism/homeostasis Short neck Behavioral abnormality Neonatal hypotonia Autistic behavior Camptodactyly of finger Short philtrum Small for gestational age Severe global developmental delay Astigmatism Coxa valga Abnormality of dental morphology Small hand Medulloblastoma Anterior plagiocephaly Hemimegalencephaly Duplication of thumb phalanx Abnormality of thumb phalanx Delayed speech and language development Frontal bossing Long philtrum Delayed skeletal maturation Deeply set eye Thin vermilion border Short foot Chronic constipation Hypoplasia of the maxilla Triangular face Dental malocclusion Underdeveloped nasal alae Overgrowth Short palpebral fissure Sparse scalp hair Large fontanelles Dental crowding Abnormality of dental enamel Sparse eyelashes Optic nerve coloboma Arnold-Chiari type I malformation Accelerated skeletal maturation Facial asymmetry Scrotal hypoplasia Metaphyseal widening Scaphocephaly Obstructive sleep apnea Broad femoral neck Nystagmus Ptosis Ventriculomegaly Agenesis of corpus callosum Polydactyly Craniosynostosis Hirsutism Foot polydactyly Intestinal malrotation Broad thumb Horizontal nystagmus Generalized hirsutism Hypopigmented skin patches Bilateral ptosis Preaxial hand polydactyly Basal cell carcinoma Aplasia/Hypoplasia of the skin Cutaneous finger syndactyly Anal stenosis Duplication of renal pelvis


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