Cataract, and Retrognathia

Diseases related with Cataract and Retrognathia

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


Top matches:

Low match AUTOSOMAL DOMINANT RHEGMATOGENOUS RETINAL DETACHMENT


Autosomal dominant rhegmatogenous retinal detachment is a rare, hereditary, non-syndromic form of vitreoretinopathy characterized by retinal tears due to abnormal vitreous, and commonly present refractive errors. No other signs or symptoms of Stickler syndrome is present.

AUTOSOMAL DOMINANT RHEGMATOGENOUS RETINAL DETACHMENT Is also known as stickler syndrome, type i, predominantly ocular|stickler syndrome, atypical

Related symptoms:

  • Hearing impairment
  • Cleft palate
  • Cataract
  • Visual impairment
  • Epicanthus


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT RHEGMATOGENOUS RETINAL DETACHMENT

Low match SQUALENE SYNTHASE DEFICIENCY; SQSD


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

Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7; MDDGA7


Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (summary by Roscioli et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7; MDDGA7 Is also known as walker-warburg syndrome or muscle-eye-brain disease, ispd-related

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Cataract
  • Low-set ears
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7; MDDGA7

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Other less relevant matches:

Low match MOYAMOYA ANGIOPATHY-SHORT STATURE-FACIAL DYSMORPHISM-HYPERGONADOTROPIC HYPOGONADISM SYNDROME


Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism.

MOYAMOYA ANGIOPATHY-SHORT STATURE-FACIAL DYSMORPHISM-HYPERGONADOTROPIC HYPOGONADISM SYNDROME Is also known as syndromic moyamoya disease|moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism|chromosome xq28 deletion syndrome, 3.4-kb

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOYAMOYA ANGIOPATHY-SHORT STATURE-FACIAL DYSMORPHISM-HYPERGONADOTROPIC HYPOGONADISM SYNDROME

Low match TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE; TTD4


Trichothiodystrophy is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder (summary by Faghri et al., 2008).Sabinas brittle hair syndrome (OMIM ) is another form of nonphotosensitive TTD.For a discussion of genetic heterogeneity of trichothiodystrophy, see {601675}.

TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE; TTD4 Is also known as trichothiodystrophy-neurocutaneous syndrome|pollitt syndrome|abhs|trichothiodystrophy, nonphotosensitive 1|bids syndrome|ttdn1|amish brittle hair brain syndrome|hair-brain syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE; TTD4

Low match WILSON-TURNER SYNDROME


Wilson-Turner syndrome (WTS) is a very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature.

WILSON-TURNER SYNDROME Is also known as wts|mental retardation, x-linked, with gynecomastia and obesity|mrxs6|mental retardation, x-linked, syndromic 6|x-linked intellectual disability-gynecomastia-obesity syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about WILSON-TURNER SYNDROME

Low match CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID; ARCL2D


Autosomal recessive cutis laxa type IID (ARCL2D) is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial features. Most patients also exhibit severe hypotonia as well as cardiovascular and neurologic involvement (summary by Van Damme et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID; ARCL2D

Low match SYNDROMIC MICROPHTHALMIA TYPE 5


Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations.

SYNDROMIC MICROPHTHALMIA TYPE 5 Is also known as mcops5|syndromic microphthalmia/anophthalmia due to otx2 mutation

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SYNDROMIC MICROPHTHALMIA TYPE 5

Low match ALKURAYA-KUCINSKAS SYNDROME; ALKKUCS


ALKKUCS is an autosomal recessive severe neurodevelopmental disorder characterized by arthrogryposis, brain abnormalities associated with cerebral parenchymal underdevelopment, and global developmental delay. Most affected individuals die in utero or soon after birth. Additional abnormalities may include hypotonia, dysmorphic facial features, and involvement of other organ systems, such as cardiac or renal. The few patients who survive have variable intellectual disability and may have seizures (summary by Gueneau et al., 2018).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about ALKURAYA-KUCINSKAS SYNDROME; ALKKUCS

Top 5 symptoms//phenotypes associated to Cataract and Retrognathia

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Cryptorchidism Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia Microcephaly Micropenis Generalized hypotonia Low-set ears Posteriorly rotated ears Optic nerve hypoplasia Macrotia Talipes equinovarus Failure to thrive Hypoplasia of the corpus callosum Microphthalmia Hypertelorism Abnormal facial shape Polymicrogyria Hypogonadism Ventricular septal defect Cleft palate Ventriculomegaly Deeply set eye Myopia Epicanthus

Rare Symptoms - Less than 30% cases


Microtia Dandy-Walker malformation Downslanted palpebral fissures Heterotopia Lissencephaly Adducted thumb Astigmatism Hypoplasia of the brainstem Partial agenesis of the corpus callosum Camptodactyly Scrotal hypoplasia Retinal dysplasia Hypotelorism Anteverted nares Cardiomyopathy Congestive heart failure Respiratory distress Small hand Motor delay Decreased testicular size Hypergonadotropic hypogonadism High palate Cerebellar hypoplasia Nystagmus Short nose Visual impairment Depressed nasal bridge Hypospadias Delayed speech and language development Retinal detachment Absent speech Hypermetropia Microcornea Hydrocephalus Flexion contracture Macrocephaly Agenesis of corpus callosum Strabismus Respiratory insufficiency Convex nasal ridge Sloping forehead Specific learning disability Broad nasal tip Tapered finger Short foot Gliosis Thick eyebrow Poor speech Triangular face Focal-onset seizure Delayed puberty Sepsis Bulbous nose Gynecomastia Hypertrophic cardiomyopathy Wide nasal bridge Atrial septal defect Hernia Inguinal hernia Short ear Pneumonia Uplifted earlobe Malar prominence Hypogonadotrophic hypogonadism Misalignment of teeth Truncal obesity Decreased muscle mass Protruding ear Blepharophimosis Narrow palpebral fissure Emotional lability Prominent supraorbital ridges Pointed chin Photophobia Cutis laxa Webbed neck Macular scar Proboscis Aglossia Myopic astigmatism Edema Behavioral abnormality Clinodactyly Upslanted palpebral fissure Arthrogryposis multiplex congenita Abnormality of eye movement Abnormality of the foot Apraxia Ectopic posterior pituitary Oculomotor apraxia Plagiocephaly Cutaneous syndactyly Aplasia/Hypoplasia of the corpus callosum Pleural effusion Overlapping toe Pericardial effusion Cystic hygroma Overlapping fingers Cerebellar dysplasia Hand clenching Mandibular aplasia Central hypothyroidism Focal impaired awareness seizure Thin upper lip vermilion Mask-like facies Right bundle branch block Bundle branch block Disproportionate tall stature Entropion Cavum septum pellucidum Wide nasal base Narrow naris Intellectual disability, severe Narrow mouth Hypothyroidism Joint laxity Hypoplasia of the fovea Scarring Coloboma Retinopathy Retinal dystrophy Hypoplasia of the maxilla Pigmentary retinopathy Microretrognathia Arnold-Chiari malformation Anophthalmia Short middle phalanx of finger Posterior embryotoxon Microglossia Neurological speech impairment Hearing impairment Pes planus Congenital muscular dystrophy Elevated serum creatine phosphokinase Glaucoma Facial palsy Muscular dystrophy Decreased fetal movement Intellectual disability, profound Encephalocele Pachygyria Large fontanelles Weak cry Frontal bossing Gonadal dysgenesis Corpus callosum atrophy Peters anomaly Type II lissencephaly Agyria Remnants of the hyaloid vascular system Ptosis Hypertension Long philtrum Stroke Areflexia Profound global developmental delay Wide nose Rhegmatogenous retinal detachment Blindness Skeletal dysplasia Nyctalopia Genu valgum Osteoarthritis Epiphora Vitreoretinopathy Premature osteoarthritis Abnormal vitreous humor morphology Posterior vitreous detachment Bilateral cryptorchidism Erosive vitreoretinopathy Membranous vitreous appearance Syndactyly Low-set, posteriorly rotated ears Irritability Toe syndactyly Dry skin Cutaneous photosensitivity Cerebral visual impairment Bicuspid aortic valve Dilated cardiomyopathy Growth hormone deficiency Brachycephaly Decreased fertility Optic atrophy Cerebral cortical atrophy Sparse hair Ichthyosis Small nail Sparse eyelashes Severe muscular hypotonia Macular degeneration Brittle hair Keratoconjunctivitis sicca Growth delay Woolly hair Corneal neovascularization Hypoplasia of teeth Trichorrhexis nodosa Concave nail Tiger tail banding Muscular hypotonia Kyphosis Obesity Pes cavus Cognitive impairment Ataxia Short phalanx of finger Moyamoya phenomenon Azoospermia Cerebral hemorrhage Premature graying of hair Stroke-like episode Abnormal left ventricle morphology Congenital ptosis Broad finger Abnormality of the nares Abnormal hand morphology Feeding difficulties Broad femoral neck Intrauterine growth retardation Gait ataxia Autism Rhizomelia Coxa valga Accelerated skeletal maturation Metaphyseal widening 2-3 toe syndactyly Scaphocephaly Obstructive sleep apnea Kinked brainstem



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Scarring, related diseases and genetic alterations Tremor and Rheumatoid arthritis, related diseases and genetic alterations Hydrocephalus and Pancytopenia, related diseases and genetic alterations Low-set ears and Downslanted palpebral fissures, related diseases and genetic alterations Micrognathia and Hyperinsulinemia, related diseases and genetic alterations

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