Brachydactyly, and Congenital cataract

Diseases related with Brachydactyly and Congenital cataract

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


Top matches:

Medium match AYME-GRIPP SYNDROME; AYGRP


Ayme-Gripp syndrome is a clinically homogeneous phenotype characterized by congenital cataracts, sensorineural hearing loss, intellectual disability, seizures, brachycephaly, a distinctive flat facial appearance, and reduced growth (Niceta et al., 2015).

AYME-GRIPP SYNDROME; AYGRP Is also known as cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about AYME-GRIPP SYNDROME; AYGRP

Medium match ADAMS-OLIVER SYNDROME 2; AOS2


Adams-Oliver syndrome-2 is an autosomal recessive multiple congenital anomaly syndrome characterized by aplasia cutis congenita (ACC) and terminal transverse limb defects, in association with variable involvement of the brain, eyes, and cardiovascular systems (summary by Shaheen et al., 2011).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 2; AOS2

Medium match MARINESCO-SJÖGREN SYNDROME


Marinesco-Sjögren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MARINESCO-SJÖGREN SYNDROME

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Other less relevant matches:

Medium match ZIMMERMANN-LABAND SYNDROME


Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.

ZIMMERMANN-LABAND SYNDROME Is also known as laband syndrome|gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome|fibromatosis, gingival, with abnormal fingers, fingernails, nose, and ears, and splenomegaly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about ZIMMERMANN-LABAND SYNDROME

Medium match CODAS SYNDROME


Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies.

CODAS SYNDROME Is also known as cerebral, ocular, dental, auricular, and skeletal anomalies syndrome|cerebrooculodentoauriculoskeletal syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CODAS SYNDROME

Medium match HEREDITARY COMBINED DEFICIENCY OF VITAMIN K-DEPENDENT CLOTTING FACTORS


Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z.

HEREDITARY COMBINED DEFICIENCY OF VITAMIN K-DEPENDENT CLOTTING FACTORS Is also known as glutamic acid, deficient gamma-carboxylation of|familial multiple coagulation factor deficiency iii|vitamin k-dependent coagulation defect|fmfd iii|hereditary combined deficiency of factors ii, vii, ix and x|multiple coagulation factor deficiency iii|mcfd

Related symptoms:

  • Cataract
  • Hydrocephalus
  • Short nose
  • Congenital cataract
  • Malabsorption


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HEREDITARY COMBINED DEFICIENCY OF VITAMIN K-DEPENDENT CLOTTING FACTORS

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 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

Low match HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6; HPMRS6


Hyperphosphatasia with mental retardation syndrome-6 (HPMRS6) is an autosomal recessive multisystem disorder characterized by global developmental delay, dysmorphic features, seizures, and congenital cataracts. Severity is variable, and the disorder may show a range of phenotypic and biochemical abnormalities, including increased serum alkaline phosphatase levels (summary by Ilkovski et al., 2015). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.For a discussion of genetic heterogeneity of HPMRS, see HPMRS1 (OMIM ).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6; HPMRS6 Is also known as gpibd12|glycosylphosphatidylinositol biosynthesis defect 12

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6; HPMRS6

Low match ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16


Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia (see this term) characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.

ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16 Is also known as hbhr|atr syndrome, deletion type|alpha thalassemia-mental retardation syndrome|mental retardation with hemoglobin h|alpha thalassemia-intellectual disability syndrome, deletion type|alpha-thalassemia/mental retardation syndrome, deletion-type|atr, deletio

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16

Top 5 symptoms//phenotypes associated to Brachydactyly and Congenital cataract

Symptoms // Phenotype % cases
Cataract Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Depressed nasal bridge Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Brachydactyly and Congenital cataract. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Epicanthus

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Generalized hypotonia Strabismus Flexion contracture High palate Scoliosis Short stature Hearing impairment Abnormal facial shape Ptosis Deeply set eye Micrognathia Hypertelorism Sensorineural hearing impairment Wide nasal bridge Short distal phalanx of finger Malar flattening Downslanted palpebral fissures Muscular hypotonia Low-set ears Short nose Abnormality of the skeletal system Polyhydramnios Growth delay Spasticity Protruding ear Intellectual disability, severe Broad forehead Delayed speech and language development Hernia Hip dysplasia Bulbous nose Dilatation Intellectual disability, moderate Hip dislocation Nystagmus Posteriorly rotated ears Anteverted nares Frontal bossing Cerebral atrophy Flat face

Rare Symptoms - Less than 30% cases


Elevated serum creatine phosphokinase Abnormal form of the vertebral bodies Kyphoscoliosis Cerebral cortical atrophy Severe short stature Abnormality of epiphysis morphology Delayed eruption of teeth Short neck Short phalanx of finger Short philtrum Congenital hip dislocation Abnormality of dental enamel Coronal cleft vertebrae Epiphyseal dysplasia Failure to thrive Pectus carinatum Short metacarpal Atrial septal defect Epiphyseal stippling Retrognathia Abnormality of the genital system Patent ductus arteriosus Cleft palate Hemivertebrae Spina bifida occulta Protruding tongue Bruising susceptibility Synophrys Cryptorchidism Hypertension Abnormality of the metacarpal bones Limb undergrowth Short thumb Hypertrichosis Wide mouth Macroglossia Neurological speech impairment Small nail Mandibular prognathia Syndactyly Hypertonia Hydrocephalus Hypoplasia of the corpus callosum Alopecia Ventriculomegaly Cerebellar hypoplasia Optic atrophy Microtia Muscular hypotonia of the trunk Polymicrogyria Macrocephaly High forehead Radioulnar synostosis Smooth philtrum Long philtrum Abnormality of the dentition Upslanted palpebral fissure Micromelia Brain neoplasm Convex nasal ridge Abnormality of the cervical spine Abnormality of the ribs Renal hypoplasia Ectopic calcification Polycystic kidney dysplasia Joint hemorrhage Spina bifida Peripheral pulmonary artery stenosis Prolonged partial thromboplastin time Narrow palate Short toe Renal agenesis Calcification of cartilage Toe syndactyly Hypothyroidism Aplasia/Hypoplasia of the eyebrow Microcytic anemia Finger syndactyly Prominent nasal bridge Underdeveloped supraorbital ridges High, narrow palate Ecchymosis Congenital shortened small intestine Prominent forehead Hypodontia Supernumerary nipple Radial deviation of finger Myelomeningocele Osteosarcoma Proptosis Celiac disease Pulmonary artery stenosis Reduced alpha/beta synthesis ratio Lumbar scoliosis Midline defect of the nose Vocal cord paresis Pes valgus Flat forehead Delayed ossification of carpal bones Thin eyebrow Hemoglobin H Squared iliac bones Triangular nasal tip Complete atrioventricular canal defect Abnormality of the larynx Rectovaginal fistula Delayed epiphyseal ossification Hypoplasia of the odontoid process Prominent metopic ridge Short humerus Hemiatrophy Hypoplastic helices Aplasia/Hypoplasia of the earlobes Epistaxis Hypochromic microcytic anemia Cystic hygroma Abnormal dermatoglyphics Cerebral hemorrhage Intestinal obstruction Cupped ear Intracranial hemorrhage Abnormal vertebral morphology Dandy-Walker malformation Broad skull Abnormal bleeding Malabsorption Absent epiphyses Asymmetry of the thorax Laryngeal obstruction Hypochromic anemia Extrahepatic biliary duct atresia Crumpled ear Dental crowding Elbow dislocation Renal hypoplasia/aplasia Hyperactivity Respiratory tract infection Talipes equinovarus Respiratory distress Developmental regression Osteopenia Abdominal pain Obesity Inguinal hernia Anemia Clinodactyly Vomiting Feeding difficulties Hypospadias Micropenis Pregnancy exposure Calcific stippling of infantile cartilaginous skeleton Bilateral cleft palate Fatigue Poor speech Low-set, posteriorly rotated ears Long palpebral fissure Echogenic fetal bowel Shortening of all distal phalanges of the fingers Prominent nasal tip Enterocolitis Thickened helices Chronic lung disease Large earlobe Hip contracture 2-3 toe syndactyly Neoplasm Elevated alkaline phosphatase Disproportionate short-limb short stature Knee flexion contracture Elbow flexion contracture Aspiration Cerebral visual impairment Abnormal lung morphology Narrow forehead Multiple epiphyseal dysplasia Abnormality of the kidney Laryngomalacia Abnormality of digit Crossed fused renal ectopia Bilateral renal hypoplasia Foot oligodactyly Absent fingernail Absent toenail Synostosis of carpal bones Oligodactyly Congenital hypothyroidism Absent thumb Pain Mixed hearing impairment Hypoplasia of the ulna Ectropion EEG with multifocal slow activity Systemic lupus erythematosus Webbed neck Deep philtrum Hypoplasia of the radius Synostosis of joints Respiratory insufficiency Atrioventricular canal defect Rhizomelia Talipes Delayed CNS myelination Concave nasal ridge Polysplenia Severe failure to thrive Sparse body hair Flared metaphysis Congenital contracture Abnormality of the metaphysis Abnormality of metabolism/homeostasis Congenital diaphragmatic hernia Limitation of joint mobility Pulmonary hypoplasia Ichthyosis Dry skin Pulmonic stenosis Severe global developmental delay Cleft lip Metaphyseal dysplasia Broad ribs Hydroureter Peripheral neuropathy Areflexia Recurrent infections Kyphosis Cerebellar atrophy Myopathy Skeletal muscle atrophy Dysarthria Muscle weakness Hypogonadism Ataxia Retinal nonattachment Adactyly Cutis marmorata telangiectatica congenita High-pitched cry Retrocerebellar cyst Retinal fold Aplasia cutis congenita of scalp Hyporeflexia Gait ataxia Corpus callosum atrophy Limb ataxia Dysphonia Infantile muscular hypotonia Sandal gap Type I diabetes mellitus Coxa valga Muscle stiffness Hypergonadotropic hypogonadism Sensorimotor neuropathy Progressive muscle weakness Pes planus Specific learning disability Decreased antibody level in blood Progressive cerebellar ataxia Microcornea Dyskinesia Short palm Muscular dystrophy Rigidity Periventricular leukomalacia Aplasia cutis congenita Cubitus valgus Sparse scalp hair Broad eyebrow Broad philtrum Shallow orbits Arnold-Chiari type I malformation Pericarditis Delayed cranial suture closure Mild short stature Tented upper lip vermilion Tapered finger Visual impairment Thin vermilion border Nail dystrophy Camptodactyly Thin upper lip vermilion Narrow mouth Brachycephaly Midface retrusion Intellectual disability, mild Craniofacial asymmetry Intrauterine growth retardation Short finger Oligohydramnios Cutis marmorata Dermal atrophy Cerebral palsy Narrow palpebral fissure Low anterior hairline Lymphedema Wide anterior fontanel Blue sclerae Wide intermamillary distance Microphthalmia Gliosis Single transverse palmar crease Short foot Retinal detachment Abnormality of the nervous system Agenesis of corpus callosum Abnormal heart morphology Depressivity Short metatarsal Congenital muscular dystrophy Spondyloepiphyseal dysplasia Hyperextensibility of the finger joints Mesiodens Short distal phalanx of toe Prominent eyelashes Aortic arch aneurysm Everted upper lip vermilion Generalized hypertrichosis Biliary atresia Cavernous hemangioma Gingival fibromatosis Delayed skeletal maturation Long penis Colpocephaly Thin bony cortex Dystrophic fingernails Aortic root aneurysm Pericardial effusion Anonychia Large for gestational age Ventricular septal defect Pneumonia Growth abnormality Short chin Abnormality of dental morphology Proximal placement of thumb Overfolded helix Bilateral ptosis Abnormality of pelvic girdle bone morphology CNS hypomyelination Short long bone Drooling Hypoplasia of dental enamel Conductive hearing impairment Omphalocele Microdontia Generalized muscle weakness Anal atresia Joint hyperflexibility Genu valgum Hypermetropia Abnormality of the pinna Metaphyseal widening Hemangioma Myopathic facies Abnormality of the cerebellar vermis Myopia Hepatomegaly Abnormal aldolase level Aplasia/Hypoplasia involving the skeletal musculature Abnormal lactate dehydrogenase activity Cerebellar cortical atrophy Metatarsus valgus Abnormal levels of creatine kinase in blood Muscle flaccidity Congestive heart failure Muscle fiber necrosis Autophagic vacuoles Avascular necrosis of the capital femoral epiphysis Mild global developmental delay Abnormality of finger Centrally nucleated skeletal muscle fibers Rimmed vacuoles External genital hypoplasia Cardiomyopathy Splenomegaly Accelerated skeletal maturation Overgrowth Intellectual disability, progressive Generalized hirsutism Gingival overgrowth Thickened skin Nephrolithiasis Thick lower lip vermilion Intellectual disability, profound Bilateral sensorineural hearing impairment Thick vermilion border Polydactyly Hirsutism Thick eyebrow Joint hypermobility Hepatosplenomegaly Umbilical hernia Coarse facial features Macrotia Dyspnea Neurocytoma



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