Cataract, and Short distal phalanx of finger

Diseases related with Cataract and Short distal phalanx of finger

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


Top matches:

Low match CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1


CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1 Is also known as chondrodysplasia punctata, brachytelephalangic|cpxr

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1

Low match BRACHYDACTYLY TYPE E


Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short.

BRACHYDACTYLY TYPE E Is also known as bde|brachydactyly, type e

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Nystagmus
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about BRACHYDACTYLY TYPE E

Low 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

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Other less relevant matches:

Low match MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY


Related symptoms:

  • Short stature
  • Hearing impairment
  • Muscular hypotonia
  • Cataract
  • Flexion contracture


SOURCES: ORPHANET MENDELIAN

More info about MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY

Low match ACRO-RENAL-OCULAR SYNDROME


Acro-renal-ocular syndrome (AROS) is a syndrome of multiple congenital anomalies and is characterized by radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesico-ureteral reflux, bladder diverticula), and ophthalmological abnormalities (mainly colobomas, but also microphthalmia, ptosis, and Duane anomaly). The phenotype overlaps with other SALL4>/i> related disorders including Okihiro syndrome and Holt-Oram syndrome (see these terms). Transmission is autosomal dominant.

Related symptoms:

  • Hypertelorism
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about ACRO-RENAL-OCULAR SYNDROME

Low match DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS


The DOOR syndrome is an acronym for deafness, onychodystrophy, osteodystrophy, and mental retardation. Cantwell (1975) suggested this designation for the disorder, which can also include triphalangeal thumbs, seizures, and abnormal dermatoglyphics. Inheritance is autosomal recessive.See also DDOD syndrome (OMIM ), which shows autosomal dominant inheritance of congenital deafness and onychodystrophy without mental retardation.

DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS Is also known as digitorenocerebral syndrome|eronen syndrome|drc syndrome|door syndrome|brachydactyly due to absence of distal phalanges

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS

Low 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

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 BORJESON-FORSSMAN-LEHMANN SYNDROME


Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes.

BORJESON-FORSSMAN-LEHMANN SYNDROME Is also known as mental retardation, x-linked, syndromic, borjeson-forssman-lehmann type|bfls|intellectual disability-epilepsy-endocrine disorders syndrome|borjeson syndrome|mrxsbfl|mental retardation, epilepsy, and endocrine disorders|borj

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about BORJESON-FORSSMAN-LEHMANN SYNDROME

Top 5 symptoms//phenotypes associated to Cataract and Short distal phalanx of finger

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

Patients with Cataract and Short distal phalanx of finger. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Strabismus High palate Flexion contracture Generalized hypotonia Epicanthus Congenital cataract Depressed nasal bridge Hearing impairment Brachydactyly Visual impairment Sensorineural hearing impairment Muscular hypotonia Growth delay Feeding difficulties Abnormality of the dentition Alopecia Macrocephaly Nystagmus Delayed speech and language development Deeply set eye Bulbous nose Epiphyseal stippling Short phalanx of finger Hypertelorism

Rare Symptoms - Less than 30% cases


Optic atrophy Wide nasal bridge Intellectual disability, severe Shortening of all distal phalanges of the fingers Limb undergrowth Large earlobe Coarse facial features Small nail Dermal atrophy Anteverted nares Microphthalmia Abnormality of the nervous system Ptosis Respiratory tract infection Hyperpigmentation of the skin Wide mouth Limitation of joint mobility Peripheral neuropathy Hydrocephalus Scoliosis Dilatation Failure to thrive Short nose Hypogonadism Narrow palpebral fissure Ichthyosis Polymicrogyria Triphalangeal thumb Muscular hypotonia of the trunk Frontal bossing Joint hyperflexibility Dandy-Walker malformation Cerebral atrophy Narrow forehead Spasticity Ectopic calcification Moderately short stature Prominent nasal tip Low-set ears Abnormal heart morphology Micrognathia Spina bifida occulta Multiple epiphyseal dysplasia Abnormality of the metaphysis Congenital contracture Delayed CNS myelination Concave nasal ridge Flared metaphysis Abnormality of epiphysis morphology Rhizomelia Polysplenia Epiphyseal dysplasia Sparse body hair Severe failure to thrive Severe short stature Congenital diaphragmatic hernia Cleft palate Low anterior hairline Cerebral palsy Cutis marmorata Short finger Aplasia cutis congenita Corpus callosum atrophy Periventricular leukomalacia Aplasia cutis congenita of scalp Retinal fold Retrocerebellar cyst High-pitched cry Cutis marmorata telangiectatica congenita Adactyly Retinal nonattachment Pain Pulmonary hypoplasia Respiratory insufficiency Atrial septal defect Malar flattening Abnormality of metabolism/homeostasis Hernia Bilateral cleft palate Upslanted palpebral fissure Cerebral cortical atrophy Kyphoscoliosis Cleft lip Severe global developmental delay Pulmonic stenosis Dry skin Flat face Coronal cleft vertebrae Disproportionate short-limb short stature Calcific stippling of infantile cartilaginous skeleton Amenorrhea Hypergonadotropic hypogonadism Short toe Gynecomastia Heterotopia Hypertrichosis Hypoplasia of penis Decreased testicular size Prominent supraorbital ridges Full cheeks Tapered finger Thick eyebrow Oral cleft Delayed puberty Hypermetropia Blepharophimosis Scrotal hypoplasia Hammertoe Abnormality of the pinna Short 5th finger Hypoplasia of the prostate Widely spaced toes Cervical spinal canal stenosis Shortening of all middle phalanges of the fingers Diabetic ketoacidosis Long ear Camptodactyly of toe Ketoacidosis Abnormality of neuronal migration Broad neck Broad foot Hypopituitarism Thickened calvaria Abnormality of the hip bone External genital hypoplasia Truncal obesity Sparse hair Feeding difficulties in infancy Pregnancy exposure Osteopenia Elbow flexion contracture Aspiration Cerebral visual impairment Abnormal lung morphology Hip dysplasia Poor speech Developmental regression Polyhydramnios Wide anterior fontanel Abdominal pain Hyperactivity Elevated serum creatine phosphokinase Inguinal hernia Clinodactyly Vomiting Short neck Knee flexion contracture Elevated alkaline phosphatase Intellectual disability, moderate Skeletal muscle atrophy EEG abnormality Macrotia Hypothyroidism Micropenis Obesity Kyphosis Abnormality of the skeletal system Cryptorchidism 2-3 toe syndactyly EEG with multifocal slow activity Echogenic fetal bowel Enterocolitis Thickened helices Chronic lung disease Hip contracture Long palpebral fissure Lymphedema Abnormality of the fingernails Blue sclerae Prematurely aged appearance Peripheral pulmonary artery stenosis Joint hemorrhage Abnormality of the cervical spine Calcification of cartilage Congenital shortened small intestine Proptosis Arthralgia Thin skin Large fontanelles Insulin resistance Wormian bones Osteolysis Hyperlipidemia Abnormality of the musculature Absent eyelashes Ecchymosis Abnormal eyebrow morphology Progeroid facial appearance Lack of skin elasticity Breast aplasia Osteolytic defects of the distal phalanges of the hand Aplasia/Hypoplasia of the clavicles Acroosteolysis of distal phalanges (feet) Conductive hearing impairment Postnatal growth retardation Coloboma Finger syndactyly Toe syndactyly Talipes Iris coloboma Prolonged partial thromboplastin time Pulmonary artery stenosis Vesicoureteral reflux Pseudohypoparathyroidism Abnormal facial shape Autoimmunity Anosmia Systemic lupus erythematosus Abnormality of the vertebral column Vitamin K deficiency Short nasal septum Maternal autoimmune disease Ataxia Joint hypermobility Round face Short metacarpal Short metatarsal Short clavicles Upper limb asymmetry Cystic hygroma Multiple impacted teeth Type E brachydactyly Straight clavicles Aplasia/Hypoplasia of the distal phalanx of the hallux Malabsorption Bruising susceptibility Abnormal bleeding Epistaxis Abnormal vertebral morphology Intracranial hemorrhage Cupped ear Intestinal obstruction Cerebral hemorrhage Celiac disease Microcornea Tetralogy of Fallot Oligohydramnios Profound sensorineural hearing impairment Polyneuropathy Prominent nose Nail dysplasia Abnormality of the skin Renal agenesis Bilateral sensorineural hearing impairment High myopia Hypsarrhythmia Abnormal dermatoglyphics Anonychia Infantile spasms Severe sensorineural hearing impairment Hypoplasia of the iris Cystic renal dysplasia Intrauterine growth retardation Downturned corners of mouth Ventriculomegaly Hypoplasia of the corpus callosum Hypertonia Syndactyly Depressivity Cerebellar hypoplasia Agenesis of corpus callosum Posteriorly rotated ears Protruding ear Retinal detachment Short foot Single transverse palmar crease Gliosis Wide intermamillary distance Everted lower lip vermilion Nail dystrophy Short palpebral fissure Broad hallux phalanx Aganglionic megacolon Short thumb Horseshoe kidney Sandal gap Renal hypoplasia/aplasia Chorioretinal coloboma Preaxial hand polydactyly Hypoplasia of the ulna Vertebral segmentation defect Vertebral fusion Short humerus Aplasia/Hypoplasia of the radius Short hallux Optic nerve coloboma Abnormality of the thumb Neonatal hypotonia Bladder diverticulum Optic disc hypoplasia Abnormality of the radius Radial club hand Crossed fused renal ectopia Short distal phalanx of the thumb Renal malrotation Myopia Respiratory distress Blindness Long philtrum Hyporeflexia Recurrent respiratory infections High forehead Scheuermann-like vertebral changes



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