Cataract, and Single transverse palmar crease

Diseases related with Cataract and Single transverse palmar crease

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


Top matches:

Low match CEREBROOCULOFACIOSKELETAL SYNDROME 2; COFS2


Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Micrognathia


SOURCES: MESH OMIM MENDELIAN

More info about CEREBROOCULOFACIOSKELETAL SYNDROME 2; COFS2

Low match LAURENCE-MOON SYNDROME


Laurence-Moon syndrome (LMS) is a very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about LAURENCE-MOON SYNDROME

Low match PROGEROID FEATURES-HEPATOCELLULAR CARCINOMA PREDISPOSITION SYNDROME


Ruijs et al. (2003) reported a Moroccan boy with a chromosomal breakage who died of hepatocellular carcinoma at age 17 years. The boy was noted to have growth retardation at age 3 years; at age 7 he was found to have thoracic kyphosis, frontal bossing, and a delayed bone age of approximately 3 years. He underwent surgery for severe bilateral posterior subcapsular cataracts at age 14. Examination at age 15 showed short stature and low weight, with premature graying of scalp hair, small frontotemporal diameter, small deep-set eyes, bulbous nose with high nasal bridge, small upper lip, and micrognathia. In addition, he had thoracic kyphoscoliosis, sloping shoulders, mild pectus excavatum, moderate bilateral contractures of both elbows, bilateral clinodactyly, and pes planus. At age 17, he developed abdominal pain, and ultrasonography revealed a liver mass; biopsy confirmed hepatocellular carcinoma. Because of the advanced stage, no treatment was possible, and he died 2 months later. Although his parents were not known to be consanguineous, they originated from the same small Moroccan village.Lessel et al. (2014) studied 2 brothers from a nonconsanguineous Australian family of European ancestry who exhibited low body weight, micrognathia, triangular face, muscular atrophy, lipodystrophy, bilateral simian creases, delayed bone age, and mild joint restrictions in the fingers and elbows. In addition, both brothers developed early-onset hepatocellular carcinoma, at ages 16 and 14 years, respectively. The older brother died at age 18 from complications of acute fulminant hepatic failure. Analysis of patient tumor biopsies showed strong focal accumulations of cancer biomarkers as well as a high proliferative index compared to healthy liver or to cells from idiopathic hepatocellular carcinoma.

PROGEROID FEATURES-HEPATOCELLULAR CARCINOMA PREDISPOSITION SYNDROME Is also known as ruijs-aalfs syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Neoplasm
  • Micrognathia
  • Pain


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGEROID FEATURES-HEPATOCELLULAR CARCINOMA PREDISPOSITION SYNDROME

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Other less relevant matches:

Low match NEONATAL ADRENOLEUKODYSTROPHY


Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term).

NEONATAL ADRENOLEUKODYSTROPHY Is also known as nald

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEONATAL ADRENOLEUKODYSTROPHY

Low match PEROXISOME BIOGENESIS DISORDER 3B; PBD3B


The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.Individuals with mutations in the PEX12 gene have cells of complementation group 3 (CG3). For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 3B; PBD3B

Low match CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4


Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.

CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4 Is also known as 2-methylacyl-coa racemase deficiency|amacr deficiency|basd4|alpha-methyl-acyl-coa racemase deficiency|liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Cataract
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4

Low match DPAGT1-CDG


DPAGT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene DPAGT1 (11q23.3).

DPAGT1-CDG Is also known as cdg syndrome type ij|cdg-ij|congenital disorder of glycosylation type 1j|cdgij|cdg1j|carbohydrate deficient glycoprotein syndrome type ij|cdg ij|dolichyl-phosphate n-acetylgalactosamine phosphotransferase deficiency|congenital disorder of glycosylation ty

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DPAGT1-CDG

Low match FAMILIAL ADENOMATOUS POLYPOSIS DUE TO 5Q22.2 MICRODELETION


FAMILIAL ADENOMATOUS POLYPOSIS DUE TO 5Q22.2 MICRODELETION Is also known as familial adenomatous polyposis due to del(5)(q22.2)|colorectal adenomatous polyposis due to monosomy 5q22.2|familial polyposis coli due to monosomy 5q22.2|familial adenomatous polyposis due to monosomy 5q22.2|fap due to monosomy 5q22.2

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL ADENOMATOUS POLYPOSIS DUE TO 5Q22.2 MICRODELETION

Low match HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC


HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC Is also known as hyperferritinemia-cataract syndrome|hyperferritinemia, hereditary, with congenital cataracts|hhcs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC

Low match POTOCKI-SHAFFER SYNDROME


Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2).

POTOCKI-SHAFFER SYNDROME Is also known as proximal 11p deletion syndrome|defect11 syndrome|pss|chromosome 11p11.2 deletion syndrome|11p11.2 deletion|p11pds

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about POTOCKI-SHAFFER SYNDROME

Top 5 symptoms//phenotypes associated to Cataract and Single transverse palmar crease

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cataract and Single transverse palmar crease. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Nystagmus Wide nasal bridge Visual impairment Muscular hypotonia Bilateral single transverse palmar creases Epicanthus Sensorineural hearing impairment Short stature Seizures Microcephaly Frontal bossing Growth delay Generalized hypotonia Anemia Congenital cataract Ataxia Low-set, posteriorly rotated ears Flexion contracture Cryptorchidism

Rare Symptoms - Less than 30% cases


Severe global developmental delay Abnormality of the liver High forehead Intrauterine growth retardation Optic atrophy Ptosis Abnormal facial shape Prominent nasal bridge Retinal dystrophy Convex nasal ridge Downslanted palpebral fissures Myopia Clinodactyly Hypertelorism Failure to thrive Hepatomegaly Dysarthria Rod-cone dystrophy Polyneuropathy Clinodactyly of the 5th finger Tremor Photophobia Decreased liver function Hyperreflexia Abnormality of cardiovascular system morphology Brachydactyly Deeply set eye Type II diabetes mellitus Hypoplasia of penis Micropenis Kyphoscoliosis Obesity Brachycephaly Turricephaly Infantile spasms Inverted nipples Jaundice Finger clinodactyly Progressive microcephaly Exotropia Hypoproteinemia Poor speech Apnea Aggressive behavior Parietal foramina Congenital ptosis Elevated hepatic transaminase Exostoses Type I transferrin isoform profile Sparse lateral eyebrow Pigmentary retinopathy Status epilepticus Intention tremor Hemiparesis Cholestasis Sensorimotor neuropathy Hypergonadotropic hypogonadism Paraparesis Spastic paraparesis Apathy Cerebral atrophy Agitation Atrophy/Degeneration affecting the brainstem Iris hypopigmentation Fat malabsorption Biliary tract abnormality Decreased skull ossification Depressed nasal tip Feeding difficulties Respiratory insufficiency Hypertonia Skin dimples Downturned corners of mouth Reduced antithrombin III activity Short nose Iron deficiency anemia Increased serum ferritin Abnormality of the elbow Ectopic anus Nuclear cataract Pulverulent cataract Hypertension Behavioral abnormality Syndactyly Sensory impairment Autism Hypothyroidism Telecanthus Prominent nose Autistic behavior Short philtrum Broad forehead Delayed puberty Microcytic anemia Underdeveloped nasal alae Cleft palate High myopia Broad nasal tip Short neck Aniridia Macrotia Joint stiffness Self-injurious behavior Anal atresia Webbed neck Abnormality of the fingernails Abnormality of the genital system Multiple exostoses Polycystic ovaries Nephroblastoma Craniofacial dysostosis Sparse eyebrow Hypoplastic toenails Non-midline cleft lip Cutaneous syndactyly Wormian bones Migraine Abnormal bleeding Coma Subcapsular cataract Carcinoma Hepatic failure Bulbous nose Triangular face Decreased body weight Elbow flexion contracture Lipodystrophy Premature graying of hair Hepatocellular carcinoma Abdominal pain Posterior subcapsular cataract Thoracic kyphosis Down-sloping shoulders Thoracic kyphoscoliosis Fulminant hepatic failure Low-set ears High palate Macrocephaly Pes planus Delayed skeletal maturation Abnormality of metabolism/homeostasis Renal insufficiency Microphthalmia Sparse hair Camptodactyly of finger Interphalangeal joint contracture of finger Cutaneous photosensitivity Scrotal hypoplasia Rocker bottom foot Large beaked nose Finger syndactyly Pectus excavatum Iris coloboma Hand polydactyly Congenital hepatic fibrosis Displacement of the external urethral meatus Abnormality of the antitragus Neoplasm Pain Skeletal muscle atrophy Kyphosis Anteverted nares EEG abnormality Sensory neuropathy Gait ataxia Very long chain fatty acid accumulation Spasticity Peripheral neuropathy Vomiting Headache Depressivity Encephalopathy Hypogonadism Mental deterioration Hypocholesterolemia Irritability Retinopathy Confusion Unsteady gait Peripheral axonal neuropathy Nausea Cirrhosis Distal sensory impairment Esodeviation Steatorrhea Developmental regression Adrenal insufficiency Dolichocephaly Abnormality of movement High, narrow palate Esotropia Abnormality of retinal pigmentation Wide anterior fontanel Abnormal palate morphology Abnormality of neuronal migration Primary adrenal insufficiency Abnormal electroretinogram Polar cataract Elevated long chain fatty acids Malar flattening Areflexia Hyporeflexia Osteoporosis Dry skin Flat face Depressed nasal ridge Cutaneous syndactyly between fingers 2 and 5



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