Cataract, and Renal hypoplasia

Diseases related with Cataract and Renal hypoplasia

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


Top matches:

Low match SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY; SRTD5


Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY; SRTD5 Is also known as atd5|asphyxiating thoracic dystrophy 5

Related symptoms:

  • Growth delay
  • Cataract
  • Hypertension
  • Brachydactyly
  • Myopia


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY; SRTD5

Low match DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE


Deafness-intellectual disability syndrome, Martin-Probst type is characterised by severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopaenia, microcephaly, and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene has been localised to the q1-21 region of the X chromosome.

DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE Is also known as martin-probst deafness-mental retardation syndrome|x-linked deafness-intellectual disability syndrome syndrome|martin-probst syndrome

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE

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Other less relevant matches:

Low match STROMME SYNDROME; STROMS


Stromme syndrome is an autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016).

STROMME SYNDROME; STROMS Is also known as jejunal atresia with microcephaly and ocular anomalies|apple peel syndrome with microcephaly and ocular anomalies|ciliary dyskinesia, primary, 31, formerly|cild31, formerly

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: MESH OMIM MENDELIAN

More info about STROMME SYNDROME; STROMS

Low match RENAL COLOBOMA SYNDROME


Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia.

RENAL COLOBOMA SYNDROME Is also known as renal-coloboma syndrome|congenital anomalies of the kidney and urinary tract with or without ocular abnormalities|optic coloboma, vesicoureteral reflux, and renal anomalies|papillo-renal syndrome|coloboma of optic nerve with renal disease|renal-coloboma s

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about RENAL COLOBOMA SYNDROME

Low match SCALP-EAR-NIPPLE SYNDROME


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

Low match CENANI-LENZ SYNDROME


Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs.

CENANI-LENZ SYNDROME Is also known as cenani-lenz syndactyly|cenani syndactyly|syndactyly type 7|syndactyly, type vii|cenani syndactylism

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Nystagmus
  • Micrognathia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CENANI-LENZ SYNDROME

Low match SHORT RIB-POLYDACTYLY SYNDROME, VERMA-NAUMOFF TYPE


Short rib-polydactyly syndrome, Verma-Naumoff type is a short rib-polydactyly syndrome characterized by short limb dwarfism, short ribs with thoracic dysplasia, postaxial polydactyly and protuberant abdomen. Associated multiple malformations include cardiovascular defects, renal agenesis /hypoplasia, abnormal cloacal development (ambiguous genitalia, anal atresia) and cerebellar hypoplasia. Short rib-polydactyly syndrome, Verma-Naumoff type follows an autosomal recessive mode of transmission. The disease is usually fatal in the perinatal period.

SHORT RIB-POLYDACTYLY SYNDROME, VERMA-NAUMOFF TYPE Is also known as short rib-polydactyly syndrome type 3

Related symptoms:

  • Micrognathia
  • Cataract
  • Cryptorchidism
  • Depressed nasal bridge
  • Epicanthus


SOURCES: ORPHANET MENDELIAN

More info about SHORT RIB-POLYDACTYLY SYNDROME, VERMA-NAUMOFF TYPE

Low match DUANE-RADIAL RAY SYNDROME; DRRS


Duane-radial ray syndrome, also known as Okihiro syndrome, is an autosomal dominant disorder characterized by upper limb anomalies, ocular anomalies, and, in some cases, renal anomalies. The combination of the 3 findings was earlier referred to as 'acro-renal-ocular syndrome.' The ocular anomalies usually include Duane anomaly (see {126800}), but this finding may be absent in some patients (Kohlhase et al., 2003). Similarly, renal anomalies are not always seen and may not have been investigated, particularly in cases reported before routine renal imaging (Aalfs et al., 1996). Other less common features include sensorineural deafness and gastrointestinal anomalies, such as imperforate anus.The Holt-Oram syndrome (OMIM ), caused by mutation in the TBX5 gene (OMIM ) on chromosome 12q24, shows similar anomalies of the upper limb, but can be differentiated from Duane-radial ray syndrome by the absence of ocular and renal anomalies and the presence of severe congenital heart defects (Kohlhase, 2003).

DUANE-RADIAL RAY SYNDROME; DRRS Is also known as dr syndrome|acrorenoocular syndrome|duane anomaly with radial ray abnormalities and deafness|okihiro syndrome

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about DUANE-RADIAL RAY SYNDROME; DRRS

Low match TOWNES-BROCKS SYNDROME


Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart.

TOWNES-BROCKS SYNDROME Is also known as renal-ear-anal-radial syndrome|tbs|rear syndrome|townes syndrome|imperforate anus with hand, foot and ear anomalies|sensorineural deafness with imperforate anus and hypoplastic thumbs

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about TOWNES-BROCKS SYNDROME

Top 5 symptoms//phenotypes associated to Cataract and Renal hypoplasia

Symptoms // Phenotype % cases
Hydronephrosis Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Abnormality of the kidney Uncommon - Between 30% and 50% cases
Myopia Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Epicanthus Bilateral renal hypoplasia Vesicoureteral reflux Renal insufficiency Micrognathia Intellectual disability Microphthalmia Hypertension Coloboma Iris coloboma Hypertelorism Short stature Agenesis of corpus callosum Hypoplasia of penis Sensorineural hearing impairment Abnormal facial shape Cryptorchidism Stage 5 chronic kidney disease Ptosis Hypothyroidism Wide mouth Blepharophimosis Renal agenesis Abnormal dermatoglyphics Crossed fused renal ectopia Depressed nasal bridge Syndactyly Anal atresia Polydactyly Microcephaly Scoliosis Strabismus Preaxial hand polydactyly Congenital cataract Proteinuria

Rare Symptoms - Less than 30% cases


Protruding ear Retinal coloboma Cleft palate Aplasia/Hypoplasia of the nipples Microtia Hypoplastic nipples Abnormality of the genital system Atrial septal defect Finger syndactyly Bifid scrotum Horseshoe kidney Multiple renal cysts Hydrocephalus Facial asymmetry Pyelonephritis Deeply set eye Abnormality of cardiovascular system morphology Renal dysplasia Intestinal malrotation Microcornea Short columella Prominent nasal bridge Abnormality of the pinna Frontal bossing Pes planus Cerebellar hypoplasia Ectopic kidney Triphalangeal thumb Renal malrotation Spina bifida occulta Nystagmus Preaxial polydactyly Seizures Global developmental delay Nephrolithiasis Cupped ear Short ribs Short foot Hypoplasia of the radius Abnormality of the urinary system Respiratory insufficiency Elevated serum creatinine Narrow chest Hypoplasia of the ulna Micromelia Toe syndactyly Wide nasal bridge Absent thumb Abnormality of the dentition Malar flattening Abnormality of the ribs Telecanthus Short thumb Ambiguous genitalia Postaxial hand polydactyly Dandy-Walker malformation Abnormal form of the vertebral bodies Abdominal distention Congenital hip dislocation Foot oligodactyly Omphalocele Convex nasal ridge Abnormality of the metaphysis Hypodontia High, narrow palate Hydrops fetalis Hip dislocation Short philtrum Disproportionate short-limb short stature Retrognathia Proptosis Short thorax Facial cleft Hemivertebrae Renal hypoplasia/aplasia Narrow palate Radioulnar synostosis Absent toenail Ectopic anus Synostosis of carpal bones Oligodactyly Congenital hypothyroidism Abnormality of digit Synostosis of joints Macrocephaly Mixed hearing impairment Ectropion Elbow dislocation Ventriculomegaly Abnormality of dental enamel Long philtrum Systemic lupus erythematosus Deep philtrum Laryngomalacia Abnormality of the metacarpal bones Cleft upper lip Absent fingernail Pulmonary hypoplasia Short palm Wide nose Renal cyst Esophageal atresia Fused cervical vertebrae Bifid tongue Abnormal vertebral morphology Overfolded helix Abnormality of vision Arnold-Chiari malformation Cranial nerve paralysis Spina bifida Preauricular skin tag Subcutaneous nodule Bowel incontinence Broad thumb Tetralogy of Fallot Abnormality of the foot Delayed puberty Abnormal cardiac septum morphology Constipation Clinodactyly of the 5th finger Chorioretinal coloboma Anteriorly placed anus Hypospadias Abnormal pulmonary valve morphology Rectoperineal fistula Abnormality of the tragus Urethral valve Bifid uterus Absent toe Partial duplication of thumb phalanx Toe clinodactyly Ulnar deviation of finger Epibulbar dermoid Abnormal vagina morphology Abnormality of the uterus Rectovaginal fistula Lower limb asymmetry Broad hallux phalanx External ear malformation Patent ductus arteriosus Failure to thrive Congenital hepatic fibrosis Dilatation Aganglionic megacolon Choanal atresia Bilateral sensorineural hearing impairment Facial palsy Diabetes mellitus Abnormal heart morphology Talipes equinovarus Short humerus Ventricular septal defect Urethrovaginal fistula Abnormal pelvis bone ossification Absent or minimally ossified vertebral bodies Bifid epiglottis Uterus didelphys Lethal skeletal dysplasia Sandal gap Absent radius Upper limb muscle hypoplasia Radial deviation of the hand Slit-like opening of the exterior auditory meatus Pectoralis hypoplasia Palpebral fissure narrowing on adduction Impaired convergence Impaired ocular abduction Impaired ocular adduction Unilateral deafness Aplasia of metacarpal bones Anal stenosis Hemifacial hypoplasia Optic disc hypoplasia Duane anomaly Small thenar eminence Abnormality of the nasopharynx Bladder diverticulum Choanal stenosis Prominent forehead Abnormality of the skin Short nose Cognitive impairment Short palpebral fissure Cerebellar vermis hypoplasia Prominent nose Astigmatism Malabsorption Myopathy Chordee Sclerocornea Telangiectasia of the skin Congenital sensorineural hearing impairment Telangiectasia Thick lower lip vermilion Pancytopenia Wide intermamillary distance Optic nerve hypoplasia Duodenal atresia Everted lower lip vermilion Corneal astigmatism Joint hyperflexibility Joint laxity Reduced visual acuity Glaucoma Edema Visual impairment Jejunal atresia Ectopia pupillae Hypoplastic iris stroma Retinal vascular tortuosity Accessory spleen Intestinal atresia Peters anomaly Sex reversal Dental malocclusion Intellectual disability, moderate Nephropathy Inability to walk Growth delay Calcinosis Poor head control Nephrocalcinosis Aminoaciduria Delayed myelination Abnormality of the cerebral white matter Respiratory distress Gastroesophageal reflux Hyporeflexia Absent speech Dysphagia Optic atrophy Spasticity Brachydactyly Inguinal hernia Umbilical hernia Thoracic dysplasia Micropenis Hernia Intellectual disability, severe Chronic tubulointerstitial nephritis Short iliac bones Pes valgus Glomerulonephritis Thin upper lip vermilion Metaphyseal widening Rhizomelia Limb undergrowth Full cheeks Oral cleft Respiratory tract infection Cleft lip Confusion Retinal detachment Downslanted palpebral fissures Narrow palpebral fissure Multiple lipomas Agenesis of permanent teeth 2-3 toe syndactyly Abnormality of the thorax Cutaneous syndactyly Abnormality of the fingernails Type I diabetes mellitus Aplasia cutis congenita Abnormality of the nail Abnormality of the hair Hypohidrosis Recurrent urinary tract infections Fine hair Hypotelorism Narrow nasal bridge Palpebral edema Delayed eruption of teeth Hypoplastic helices Duplication of renal pelvis Abnormality of the scalp Underdeveloped antitragus 3-4 finger cutaneous syndactyly Underdeveloped tragus Bilateral camptodactyly Breast aplasia Abnormality of the antihelix Small earlobe Aplasia cutis congenita of scalp Ureteral duplication Absent nipple Abnormality of the endocrine system Eyelid coloboma Nail dysplasia Dry skin Gliosis Visual field defect Hydrocele testis Abnormality of the vasculature Soft skin Arnold-Chiari type I malformation Severe vision loss Chorioretinal atrophy Nephritis High-frequency hearing impairment Hyperextensible skin Chronic kidney disease Abnormality of the genitourinary system Macular degeneration Multicystic kidney dysplasia Progressive visual loss Optic nerve coloboma Ureteropelvic junction obstruction Nail dystrophy Ureterovesical junction obstruction Sparse hair Camptodactyly Mandibular prognathia Hyperhidrosis Anteverted nares Generalized hypotonia Recurrent pyelonephritis Platybasia Macular hyperpigmentation Orbital cyst Morning glory anomaly Scleral staphyloma Optic nerve dysplasia Mild proteinuria Lens luxation Aplasia/Hypoplasia of the 3rd toe



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