Epicanthus, and Alopecia

Diseases related with Epicanthus and Alopecia

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

Top matches:

Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria (see these terms). Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay.

METAPHYSEAL CHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA Is also known as spondyloenchondromatosis with d-2-hydroxyglutaric aciduria|metaphyseal enchondrodysplasia with 2-hydroxyglutaric aciduria|metaphyseal chondromatosis with d-2-hydroxyglutaric aciduria

Related symptoms:

  • Global developmental delay
  • Short stature
  • Scoliosis
  • Strabismus
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about METAPHYSEAL CHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA

Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome is an autosomal dominant disorder characterized by these 4 features, which begin in early childhood and are progressive (summary by Moalem et al., 2015).

HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME; HLTRS Is also known as glomerulonephritis with sparse hair and telangiectases|telangiectatic membranoproliferative glomerulonephritis

Related symptoms:

  • Global developmental delay
  • Abnormal facial shape
  • Hypertension
  • Epicanthus
  • Wide nasal bridge


SOURCES: MESH OMIM MENDELIAN

More info about HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME; HLTRS

Vitamin D-dependent rickets type 2A (VDDR2A) is caused by a defect in the vitamin D receptor gene. This defect leads to an increase in the circulating ligand, 1,25-dihydroxyvitamin D3. Most patients have total alopecia in addition to rickets.VDDR2B (OMIM ) is a form of vitamin D-dependent rickets with a phenotype similar to VDDR2A but a normal vitamin D receptor, in which end-organ resistance to vitamin D has been shown to be caused by a nuclear ribonucleoprotein that interferes with the vitamin D receptor-DNA interaction.For a general phenotypic description and discussion of genetic heterogeneity of rickets due to disorders in vitamin D metabolism or action, see vitamin D-dependent rickets type 1A (VDDR1A ).

VITAMIN D-DEPENDENT RICKETS, TYPE 2A; VDDR2A Is also known as generalized resistance to 1,25-dihydroxyvitamin d|rickets-alopecia syndrome|vitamin d-dependent rickets, type 2a, with or without alopecia|vitamin d-resistant rickets with end-organ unresponsiveness to 1,25-dihydroxycholecalciferol|hypocalcemic vitamin d-

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Growth delay
  • Failure to thrive
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about VITAMIN D-DEPENDENT RICKETS, TYPE 2A; VDDR2A

Other less relevant matches:

Oculo-ectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenital.

TORIELLO-LACASSIE-DROSTE SYNDROME Is also known as oculoectodermal syndrome|aplasia cutis congenita with epibulbar dermoids|aplasia cutis congenita-epibulbar dermoids syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Neoplasm


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about TORIELLO-LACASSIE-DROSTE SYNDROME

Medium match KNOBLOCH SYNDROME

Knobloch syndrome (KS) is defined by vitreoretinal and macular degeneration, and occipital encephalocele.

KNOBLOCH SYNDROME Is also known as retinal detachment and occipital encephalocele|knobloch-layer syndrome|retinal detachment-occipital encephalocele syndrome|kno

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KNOBLOCH SYNDROME

Distal arthrogryposis type 5 is distinguished from other forms of DA by the presence of ocular abnormalities, typically ptosis, ophthalmoplegia, and/or strabismus, in addition to contractures of the skeletal muscles. Some cases have been reported to have pulmonary hypertension as a result of restrictive lung disease (summary by Bamshad et al., 2009).There are 2 syndromes with features overlapping those of DA5 that are also caused by heterozygous mutation in PIEZO2: distal arthrogryposis type 3 (DA3, or Gordon syndrome; {114300}) and Marden-Walker syndrome (MWKS ), which are distinguished by the presence of cleft palate and mental retardation, respectively. McMillin et al. (2014) suggested that the 3 disorders might represent variable expressivity of the same condition.For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1A (OMIM ). Genetic Heterogeneity of Distal Arthrogryposis 5A subtype of DA5 due to mutation in the ECEL1 gene (OMIM ) on chromosome 2q36 has been designated DA5D (OMIM ). See NOMENCLATURE.

ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5 Is also known as daiib|arthrogryposis, distal, type iib|arthrogryposis with oculomotor limitation and electroretinal abnormalities|oculomelic amyoplasia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5

Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS, see this term) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia.

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT ROBINOW SYNDROME

Orofaciodigital syndrome type I (OFD1) is characterized by malformations of the face, oral cavity, and digits and is transmitted as an X-linked dominant condition with lethality in males. Thickened alveolar ridges and abnormal dentition, including absent lateral incisors, are additional characteristics of OFD1. The central nervous system may also be involved in as many as 40% of cases. Although these clinical features overlap those reported in other forms of orofaciodigital syndrome, OFD1 can be easily distinguished from among these by its X-linked dominant inheritance pattern and by polycystic kidney disease, which seems to be specific to type I (summary by Ferrante et al., 2001).Since the CXORF5 gene localizes to the centrosome and basal body of primary cilia, OFD1 is considered to be a ciliopathy (Chetty-John et al., 2010).

OROFACIODIGITAL SYNDROME I; OFD1 Is also known as oral-facial-digital syndrome, type i|papillon-leage and psaume syndrome|ofds i

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME I; OFD1

Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females.

OROFACIODIGITAL SYNDROME TYPE 1 Is also known as ofd1|papillon-lÉage-psaume syndrome|ofdsi|oral-facial-digital syndrome type 1|ofdi

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 1

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

Top 5 symptoms//phenotypes associated to Epicanthus and Alopecia

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Wide nasal bridge Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
Depressed nasal bridge Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Epicanthus and Alopecia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Brachydactyly Seizures Micrognathia Dilatation Abnormal facial shape Macrocephaly Hypertelorism Short stature Frontal bossing Hypertension Agenesis of corpus callosum Hydrocephalus Facial asymmetry Lymphedema Low-set ears Telecanthus Proteinuria Scoliosis Short palm High palate Cleft palate Downslanted palpebral fissures Generalized hypotonia Growth delay Aplasia cutis congenita Sparse hair Renal insufficiency

Rare Symptoms - Less than 30% cases

Median cleft lip Hypodontia Clinodactyly of the 5th finger Bifid tongue Finger syndactyly Narrow face Tongue nodules Blue sclerae Lobulated tongue Retinal detachment Congenital cataract Abnormality of the pancreas Deviation of finger Pancreatic cysts Polymicrogyria Bulbous nose Milia Abnormal heart morphology Anteverted nares Ventriculomegaly Abnormality of the penis Increased number of teeth Epispadias Ataxia Open bite Arachnoid cyst Visual impairment Microcephaly Absent septum pellucidum Tremor Short nose Abnormality of the dentition Syndactyly Depressivity Cerebral atrophy Midface retrusion Astigmatism Blepharophimosis Proptosis Retrognathia Underdeveloped nasal alae Hypospadias Posteriorly rotated ears Hypoplasia of dental enamel Sensorineural hearing impairment Wide intermamillary distance Tarsal synostosis Stage 5 chronic kidney disease Protruding ear Retinal fold Deeply set eye Clinodactyly Pyloric stenosis Pectus excavatum Aplasia cutis congenita of scalp Flexion contracture Ptosis Failure to thrive Short neck Muscular hypotonia Carious teeth Motor delay Coxa valga Tapetoretinal degeneration Severe short stature Abnormality of the rib cage Cryptorchidism Coxa vara Sacral dimple Overlapping fingers Hypoventilation Distal arthrogryposis Aplasia/Hypoplasia of the radius Ulnar deviation of finger Keratoconus Inguinal hernia Abnormality of the sternum Oligodontia Abnormality of the hip bone Vertebral segmentation defect Long philtrum Elbow dislocation Long fingers Restrictive ventilatory defect Long palpebral fissure Macular dystrophy Decreased muscle mass Capillary hemangioma Anodontia Bilateral talipes equinovarus Hemivertebrae Prominent forehead Hip dislocation Specific learning disability Exophoria Micromelia Wide nose Downturned corners of mouth High, narrow palate Firm muscles Decreased facial expression Hip dysplasia Amyoplasia Limited wrist extension Absent phalangeal crease Congenital finger flexion contractures Round ear Hypoplasia of penis Gingival overgrowth Keratoglobus Decreased palmar creases Internally rotated shoulders Abnormal form of the vertebral bodies Long eyelashes Short philtrum Pectus carinatum Ulnar deviation of the wrist Camptodactyly of finger Umbilical hernia Upslanted palpebral fissure Duane anomaly Unilateral ptosis Hypoplastic labia majora Genu valgum Avascular necrosis of the capital femoral epiphysis Abnormality of the skull Intrauterine growth retardation Delayed speech and language development Spasticity Odontogenic neoplasm Lip pit Hamartoma of tongue Accessory oral frenulum Broad alveolar ridges Hypoplasia of the zygomatic bone Exocrine pancreatic insufficiency Hypoplasia of the corpus callosum Foot polydactyly Preaxial hand polydactyly Cone-shaped epiphysis Chronic otitis media Hand polydactyly Brittle hair Coarse hair Reduced bone mineral density Abnormality of dental enamel Multicystic kidney dysplasia Optic atrophy Hypertonia Abnormality of the face Narrow palpebral fissure Adactyly Cutis marmorata telangiectatica congenita High-pitched cry Retrocerebellar cyst Periventricular leukomalacia Corpus callosum atrophy Short finger Cutis marmorata Dermal atrophy Cerebral palsy Low anterior hairline Microphthalmia Wide anterior fontanel Small nail Oligohydramnios Gliosis Single transverse palmar crease Short foot Short distal phalanx of finger Muscular hypotonia of the trunk Abnormality of the nervous system Cerebellar hypoplasia Short toe Choanal atresia Femoral hernia Congenital contracture Microretrognathia Hepatic fibrosis Bifid uvula Abnormal cerebellum morphology Postaxial polydactyly Oral cleft Abnormality of the cerebral white matter Abnormality of the kidney Cleft lip Polydactyly Dysarthria Polycystic kidney dysplasia Onychogryposis of fingernail Naevus flammeus of the eyelid Euryblepharon Ridged fingernail Curly eyelashes Hypoplastic labia minora Abnormality of the gingiva Clitoral hypoplasia Median cleft lip and palate Fingernail dysplasia Cutaneous syndactyly Radial deviation of finger Postaxial hand polydactyly Gray matter heterotopias Dandy-Walker malformation Dry skin Hydronephrosis Elevated hepatic transaminase Dystonia Abnormality of the skeletal system Trident hand Abnormality of toe Multiple glomerular cysts Alveolar ridge overgrowth Hypothalamic hamartoma Molar tooth sign on MRI Narrow naris Hepatic cysts Porencephalic cyst Dry hair Ovarian cyst Abnormal cortical gyration Myelomeningocele Atrioventricular canal defect Nephronophthisis Agenesis of permanent teeth Mask-like facies Talipes equinovarus Bilateral ptosis Femoral bowing Alopecia totalis Thin bony cortex Elevated circulating parathyroid hormone level Delayed epiphyseal ossification Premature loss of teeth Protuberant abdomen Osteomalacia Hyperparathyroidism Tibial bowing Hypophosphatemia Generalized aminoaciduria Bowing of the legs Flat occiput Metaphyseal irregularity Rickets Elevated alkaline phosphatase Aminoaciduria Hypocalcemia Bone pain Abnormality of the skin Alopecia universalis Difficulty standing Delayed eruption of teeth Bulging of the costochondral junction Nevus Stroke Coloboma Polyhydramnios Hyperactivity Abnormality of cardiovascular system morphology Feeding difficulties Neoplasm Subperiosteal bone resorption Deformed rib cage Hypocalcemic seizures Increased serum 1,25-dihydroxyvitamin D3 Secondary hyperparathyroidism Sparse bone trabeculae Enlargement of the ankles Bulging epiphyses Abdominal wall muscle weakness Enlargement of the wrists Widely patent fontanelles and sutures Fibular bowing Recurrent fractures Papule Coarctation of aorta Abnormality of the pinna Telangiectasia Eczema Broad nasal tip Thick vermilion border Hypotrichosis Prominent nasal bridge Mandibular prognathia Hyperkeratosis Edema D-2-hydroxyglutaric aciduria Sparse and thin eyebrow Abnormality of dental eruption Cavum septum pellucidum Thoracolumbar scoliosis Irregular vertebral endplates Thoracic scoliosis Rhizomelia Waddling gait Aciduria Tapered finger Hydrops fetalis Sparse eyelashes Irritability Arteriosclerosis Difficulty walking Joint laxity Telangiectasia of extensor surfaces Facial telangiectasia in butterfly midface distribution Epidermal hyperkeratosis Choroid plexus calcification Pulmonary lymphangiectasia Oval face Membranoproliferative glomerulonephritis Nonimmune hydrops fetalis Chronic kidney disease Hydrocele testis Narrow nose Absent eyelashes Palpebral edema Freckling Long nose Reduced subcutaneous adipose tissue Absent eyebrow Glomerulonephritis Abnormality of the cardiovascular system Short palpebral fissure Abnormal electroretinogram Macular hypoplasia Occipital meningocele Peripapillary atrophy Exudative retinal detachment Cerebellar malformation Abnormal vitreous humor morphology Phthisis bulbi Lymphangioma Band keratopathy Lens luxation Total anomalous pulmonary venous return Cephalocele Anomalous pulmonary venous return Large forehead Calvarial skull defect Vitreoretinopathy Meningocele Acute lymphoblastic leukemia Occipital encephalocele Chorioretinal atrophy Cortical dysplasia Bifid ureter Congestive heart failure Ectopia lentis Arachnodactyly Adducted thumb Bilateral single transverse palmar creases Joint contracture of the hand Abnormality of retinal pigmentation Abnormal lung morphology Lumbar hyperlordosis Webbed neck Triangular face Abnormality of skin pigmentation Abnormality of the foot Areflexia Abnormality of eye movement Hypermetropia Ophthalmoplegia Arthrogryposis multiplex congenita Retinopathy Joint stiffness Hyperlordosis Camptodactyly Narrow mouth Dextrocardia Corneal dystrophy Aganglionic megacolon Lower limb asymmetry Exstrophy Laryngeal hypoplasia Epidermal nevus Abnormality of the bladder Parietal bossing Epibulbar dermoid Fibroma Bladder exstrophy Abnormality of nervous system morphology Eyelid coloboma Gastrointestinal atresia Transient ischemic attack Abnormality of the ureter Generalized hyperpigmentation Hamartoma Aplasia/Hypoplasia of the skin Multiple lipomas Abnormality of the ear Opacification of the corneal stroma Hyperpigmentation of the skin Abnormal conjunctiva morphology Anisometropia Macular degeneration Joint hyperflexibility Horizontal nystagmus Abnormality of the hair Pachygyria Encephalocele Thin skin High myopia Progressive visual loss Vesicoureteral reflux Retinal degeneration Leukemia Ossifying fibroma Nyctalopia Mental deterioration Glaucoma Patent ductus arteriosus Visual loss Cerebellar atrophy Blindness Myopia Cataract Nystagmus Retinal nonattachment


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