Cataract, and Pulmonary hypoplasia

Diseases related with Cataract and Pulmonary hypoplasia

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


Top matches:

Medium match TETRA-AMELIA


Tetraamelia syndrome-1 is characterized by complete limb agenesis without defects of scapulae or clavicles. Other features include bilateral cleft lip/palate, diaphragmatic defect with bilobar right lung, renal and adrenal agenesis, pelvic hypoplasia, and urogenital defects (Niemann et al., 2004). Genetic Heterogeneity of tetraamelia syndromeTetraamelia syndrome-2 (TETAMS2 ) is caused by mutation in the RSPO2 gene (OMIM ) on chromosome 8q23.

TETRA-AMELIA Is also known as total amelia|tetraamelia syndrome, autosomal recessive

Related symptoms:

  • Micrognathia
  • Cleft palate
  • Cataract
  • Low-set ears
  • Hydrocephalus


SOURCES: OMIM ORPHANET MENDELIAN

More info about TETRA-AMELIA

Medium match BLOMSTRAND LETHAL CHONDRODYSPLASIA


Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia (see this term) characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality.

BLOMSTRAND LETHAL CHONDRODYSPLASIA Is also known as blomstrand chondrodysplasia|blomstrand osteochondrodysplasia|chondrodysplasia, blomstrand type|bocd|blc

Related symptoms:

  • Micrognathia
  • Cataract
  • Low-set ears
  • Depressed nasal bridge
  • Anteverted nares


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BLOMSTRAND LETHAL CHONDRODYSPLASIA

Medium match ALG8-CDG


ALG8-CDG is a form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis; see this term), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation.

ALG8-CDG Is also known as cdg-ih|congenital disorder of glycosylation type 1h|cdgih|carbohydrate deficient glycoprotein syndrome type ih|cdg1h|cdg syndrome type ih|cdg ih|glucosyltransferase 2 deficiency|congenital disorder of glycosylation type ih

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ALG8-CDG

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Other less relevant matches:

Medium match DONNAI-BARROW SYNDROME


Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common.

DONNAI-BARROW SYNDROME Is also known as syndrome of ocular and facial anomalies, telecanthus and deafness|diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria|foar syndrome|facio-oculo-acoustico-renal syndrome|diaphragmatic her

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about DONNAI-BARROW SYNDROME

Medium match SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC


Spondyloepiphyseal dysplasia congenita is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Skeletal features are manifested at birth and evolve with time. Other features include myopia and/or retinal degeneration with retinal detachment and cleft palate (summary by Anderson et al., 1990).

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC Is also known as sed congenita|spondyloepiphyseal dysplasia, congenital type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC

Medium 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

Medium match RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1


Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life. RCDP1 is the most frequent form of RCDP (summary by Wanders and Waterham, 2005).Individuals with RCDP1, carrying mutations in the PEX7 gene, have cells of peroxisome biogenesis disorder (PBD) complementation group 11 (CG11, equivalent to CGR). For information on the history of PBD complementation groups, see {214100}. Genetic Heterogeneity of Rhizomelic Chondrodysplasia PunctataRCDP2 (OMIM ) is caused by mutation in the gene encoding acyl-CoA:dihydroxyacetonephosphate acyltransferase (GNPAT ) on chromosome 1q42. RCDP3 (OMIM ) is caused by mutation in the gene encoding alkyldihydroxyacetonephosphate synthase (alkyl-DHAP synthase) (AGPS ) on chromosome 2q31. RCDP5 (OMIM ) is caused by mutation in the gene encoding peroxisomal biogenesis factor-5 (PEX5 ) on chromosome 12p13.Whereas RCDP1 is a peroxisomal biogenesis disorder (PBD), RCDP2 and RCDP3 are classified as single peroxisome enzyme deficiencies (Waterham and Ebberink, 2012).

RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1 Is also known as pbd9|chondrodystrophia calcificans punctata|chondrodysplasia punctata, rhizomelic form|peroxisome biogenesis disorder 9|cdpr

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1

Medium match NEU-LAXOVA SYNDROME


Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism.

NEU-LAXOVA SYNDROME Is also known as neu-laxova syndrome|3-phosphoglycerate dehydrogenase deficiency, neonatal form|nls

Related symptoms:

  • Microcephaly
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEU-LAXOVA SYNDROME

Medium match MICROPHTHALMIA, LENZ TYPE


Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia (see this term) characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly (see these terms)), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome (see these terms).

MICROPHTHALMIA, LENZ TYPE Is also known as lenz microphthalmia syndrome|lenz dysplasia|lenz microphthalmia|maa, formerly

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MICROPHTHALMIA, LENZ TYPE

Medium match BRANCHIO-OCULO-FACIAL SYNDROME


Branchio-oculo-facial syndrome (BOFS) is characterised by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth.

BRANCHIO-OCULO-FACIAL SYNDROME Is also known as bofs|hemangiomatous branchial clefts-lip pseudocleft syndrome|branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature aging|bof syndrome|lip pseudocleft-hemangiomatous branchial cyst syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about BRANCHIO-OCULO-FACIAL SYNDROME

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

Symptoms // Phenotype % cases
Micrognathia Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Scoliosis Uncommon - Between 30% and 50% cases
Cryptorchidism Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Malar flattening Depressed nasal bridge Cleft palate Cleft upper lip Low-set ears Cleft lip Hearing impairment Sensorineural hearing impairment Short neck Microphthalmia Short stature Kyphosis Intellectual disability Limb undergrowth Microcephaly Micromelia Narrow chest High palate Agenesis of corpus callosum Seizures Joint contracture of the hand Telecanthus Hyperlordosis Generalized hypotonia Patent ductus arteriosus Abnormality of the metaphysis Abnormality of cardiovascular system morphology Short thorax Hydronephrosis Oral cleft Rhizomelia Abnormality of epiphysis morphology Intrauterine growth retardation Ventricular septal defect Talipes equinovarus Iris coloboma Flexion contracture Coloboma Abnormality of the dentition Global developmental delay Anal atresia Abnormality of the pinna Renal agenesis Myopia Hernia Frontal bossing Long philtrum Camptodactyly Proptosis Nystagmus

Rare Symptoms - Less than 30% cases


Congenital diaphragmatic hernia Epiphyseal dysplasia Wide intermamillary distance Overfolded helix Midface retrusion Retinal detachment Pyloric stenosis Broad nasal tip Aplasia/Hypoplasia of the corpus callosum High myopia Anophthalmia Posteriorly rotated ears Pain Omphalocele Macrocephaly Broad forehead Proximal placement of thumb Lumbar hyperlordosis Microcornea Ptosis Toe syndactyly Finger syndactyly Clinodactyly Syndactyly Abnormality of the skeletal system Polymicrogyria Ichthyosis Radial deviation of finger Kyphoscoliosis Upslanted palpebral fissure Bilateral cryptorchidism Intellectual disability, severe Wide nasal bridge Abnormality of the philtrum Hypospadias Severe short stature Ventriculomegaly Polydactyly Glaucoma Flat face Limitation of joint mobility Everted lower lip vermilion Epicanthus Respiratory insufficiency Clinodactyly of the 5th finger Cerebellar hypoplasia Dandy-Walker malformation Ambiguous genitalia Neurological speech impairment Preaxial hand polydactyly Low-set, posteriorly rotated ears Renal cyst Renal hypoplasia Short ribs Abnormal facial shape Platyspondyly Skeletal dysplasia Hydrops fetalis Polyhydramnios Short nose Abnormal cardiac septum morphology Lethal skeletal dysplasia Bilateral cleft lip Edema Flared metaphysis Decreased fetal movement Yellow subcutaneous tissue covered by thin, scaly skin Type III lissencephaly Vaginal atresia Abnormality of limbs Aplasia/Hypoplasia involving the skeletal musculature Ablepharon Short umbilical cord Small placenta Motor delay Choroid plexus cyst Bifid uterus Macrogyria Abnormality of the cerebellar vermis Visual impairment Abnormality of the renal tubule Blindness High, narrow palate Preauricular skin tag Dental crowding Aganglionic megacolon Recurrent otitis media Anencephaly Webbed neck Brain atrophy Delayed eruption of teeth Single umbilical artery Dilatation Camptodactyly of finger Autistic behavior Asplenia Aggressive behavior Autism Hypoplastic pelvis Pectus excavatum Amniotic constriction ring Long penis Abnormal nasolacrimal system morphology Abnormality of nervous system morphology Calcaneovalgus deformity Abnormality of the diaphragm Large hands Ectropion Rickets Patent foramen ovale Pterygium Lissencephaly Spina bifida Abnormality of the hair Rocker bottom foot Pachygyria Depressed nasal ridge Thick lower lip vermilion Sloping forehead Cerebral calcification Abnormality of the skin Ectodermal dysplasia Bifid uvula Gastroschisis Phocomelia Hydranencephaly Abnormality of the mouth Bicuspid aortic valve Generalized edema Lack of skin elasticity Abnormal cortical gyration Trismus Abnormal eyelid morphology Broad foot Absent eyelashes Severe intrauterine growth retardation Abnormality of neuronal migration Abnormal eyelash morphology Submucous cleft hard palate Osteomalacia Transposition of the great arteries Absent septum pellucidum External genital hypoplasia Prominent occiput Opisthotonus Muscle stiffness Self-injurious behavior Renal hypoplasia/aplasia Non-midline cleft lip White forelock Hypoplastic fingernail Retinal coloboma Premature skin wrinkling Atypical scarring of skin Median cleft lip Aplasia cutis congenita Hamartoma Premature graying of hair Agenesis of cerebellar vermis Supernumerary nipple Preauricular pit Unilateral renal agenesis Preaxial polydactyly Nasal speech Dermal atrophy Deep philtrum Reduced number of teeth Bifid nasal tip Nasolacrimal duct obstruction Abnormality of the outer ear Auricular pit Ectopic thymus tissue Supraauricular pit Upper lip pit Duplication of internal organs Malrotation of colon Postauricular pit Enlarged vestibular aqueduct Short nasal septum Lower lip pit Fingernail dysplasia Branchial anomaly Hypoplastic superior helix Small forehead Dermoid cyst Branchial fistula Lacrimal duct atresia Polycoria Everted upper lip vermilion Lacrimal duct stenosis Hemangioma Multicystic kidney dysplasia Renal dysplasia Short clavicles Shield chest Optic nerve coloboma Misalignment of teeth Sclerocornea Down-sloping shoulders Abnormality of the clavicle Self-mutilation External ear malformation Agenesis of permanent teeth Ankyloblepharon Hydroureter Spastic diplegia Hydrocephalus Abnormality of dental morphology Choanal atresia Clubbing Abnormality of the genital system Chorioretinal coloboma Urethral atresia Rectal prolapse Abnormality of the shoulder Elbow flexion contracture Microtia Short thumb Low posterior hairline Tetralogy of Fallot Microdontia Hypodontia Single transverse palmar crease Dolichocephaly Small for gestational age Postnatal growth retardation Long thorax Abnormality of the kidney Conductive hearing impairment Gastroesophageal reflux Intellectual disability, mild Strabismus Ciliary body coloboma Agenesis of maxillary lateral incisor Abnormal palmar dermatoglyphics Complete duplication of thumb phalanx Muscle cramps Tetraamelia Thick vermilion border Gait disturbance Arthritis Synostosis of joints Advanced ossification of carpal bones Broad clavicles Squared iliac bones Congestive heart failure Respiratory distress Hypertension Neonatal short-limb short stature Distal shortening of limbs Muscular hypotonia Muscle weakness Advanced tarsal ossification Laryngeal calcification Non-acidotic proximal tubulopathy Low-molecular-weight proteinuria Infra-orbital crease Apnea Respiratory tract infection Diaphragmatic eventration Abnormal lung morphology Spondyloepiphyseal dysplasia Back pain Genu varum Growth abnormality Sleep apnea Coxa vara Abnormal form of the vertebral bodies Generalized osteosclerosis Osteoarthritis Autoimmunity Waddling gait Metaphyseal cupping Aplastic clavicle Retinal degeneration Paresthesia Genu valgum Hip dislocation Pectus carinatum Macular hypoplasia Proximal tubulopathy Vestibular dysfunction Downslanted palpebral fissures Hypothyroidism Dyspnea Proteinuria Umbilical hernia Prominent forehead Hepatic failure Ascites Cholestasis Retinal dystrophy Large fontanelles Lymphedema Decreased liver function Abnormal intestine morphology Tachypnea Hypoalbuminemia Protein-losing enteropathy Abnormal isoelectric focusing of serum transferrin Thrombocytopenia Diarrhea Short sternum Prominent supraorbital ridges Bicornuate uterus Abnormality of the uterus Widow's peak Hypoplasia of the iris Severe sensorineural hearing impairment Partial agenesis of the corpus callosum Long nose Failure to thrive Aminoaciduria Vomiting Abnormal vertebral morphology Wide anterior fontanel Heterotopia Anemia Hepatomegaly Brachydactyly Progressive visual loss Intestinal malrotation Bowing of the legs Restrictive ventilatory defect Amelia Peripheral pulmonary vessel aplasia Severe failure to thrive Epiphyseal stippling Sparse body hair Congenital contracture Spina bifida occulta Short distal phalanx of finger Adrenal gland agenesis Dry skin Concave nasal ridge Pulmonic stenosis Congenital cataract Severe global developmental delay Anteverted nares Cerebral cortical atrophy Alopecia Abnormality of metabolism/homeostasis Atrial septal defect Polysplenia Delayed CNS myelination Spasticity Hypogonadism Arthrogryposis multiplex congenita Muscular dystrophy Absent external genitalia Wide mouth Primary hypothyroidism Retrognathia Osteopenia Macrotia Osteoporosis Multiple epiphyseal dysplasia Single naris Tetraphocomelia Hypoplasia of the fallopian tube Skeletal muscle atrophy Pregnancy exposure Calcific stippling of infantile cartilaginous skeleton Bilateral cleft palate Coronal cleft vertebrae Premature birth Short metacarpal Progressive sensorineural hearing impairment Limited hip movement Protruding tongue Protuberant abdomen Delayed calcaneal ossification Limitation of knee mobility Neonatal short-trunk short stature Sciatica Delayed pubic bone ossification Retinoschisis Cervical myelopathy Mesomelia Flattened epiphysis Limited elbow movement Myelopathy Ovoid vertebral bodies Barrel-shaped chest Vitreoretinopathy Hypoplasia of the odontoid process Disproportionate short stature Natal tooth Accelerated skeletal maturation Urethrovaginal fistula Facial cleft Abnormal pelvis bone ossification Absent or minimally ossified vertebral bodies Bifid epiglottis Uterus didelphys Congenital hepatic fibrosis Bifid tongue Ectopic anus Esophageal atresia Coarctation of aorta Short palm Disproportionate short-limb short stature Bowing of the long bones Hypoplasia of penis Postaxial hand polydactyly Increased bone mineral density Abdominal distention Short foot Wide nose Fusion of middle ear ossicles



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