Epicanthus, and Hip dysplasia

Diseases related with Epicanthus and Hip dysplasia

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


Top matches:

High match HERMANSKY-PUDLAK SYNDROME WITH NEUTROPENIA


Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia.

HERMANSKY-PUDLAK SYNDROME WITH NEUTROPENIA Is also known as hps2|hermansky-pudlak syndrome type 2

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME WITH NEUTROPENIA

High match COG6-CGD


CDG2L is an autosomal recessive multisystem disorder apparent from birth or early infancy. It is characterized by poor growth, gastrointestinal and liver abnormalities, delayed psychomotor development, hypotonia, recurrent infections, hematologic abnormalities, increased bleeding tendency, and hyperhidrosis or hyperkeratosis. More variable features include nonspecific dysmorphic facial features and cardiac septal defects. The disorder often results in death in infancy or the first years of life (summary by Rymen et al., 2015).For a general discussion of CDGs, see CDG1A (OMIM ) and CDG2A (OMIM ).

COG6-CGD Is also known as congenital disorder of glycosylation type 2l|cdg syndrome type iil|cdg-iil|cdg2l|congenital disorder of glycosylation type iil|cdgiil|cdg iil

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COG6-CGD

High match AUTOSOMAL DOMINANT ROBINOW SYNDROME


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

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Other less relevant matches:

High match COFFIN-SIRIS SYNDROME 6; CSS6


Coffin-Siris syndrome-6 is characterized by short stature, sparse hair, mild to severe intellectual disability, coarse facial features, and variable behavioral anomalies. Some patients have fifth digit clinodactyly with small nails. Other congenital anomalies and seizures may be present. This description is based on reports of 7 unrelated patients (Shang et al., 2015; Van Paemel et al., 2017; Bramswig et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 6; CSS6

High match EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE


Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility. The dermatosparaxis type (formerly called EDS type VIIC) is marked by extremely fragile tissues, hyperextensible skin and easy bruising. Facial skin contains numerous folds, as in the cutis laxa syndrome. Umbilical or inguinal hernias have also been described. Dermatosparaxis is extremely rare and few cases only have been reported. The disease is transmitted as an autosomal recessive trait. It is due to N-terminal procollagen I peptidase deficiency causing abnormal maturation of the alpha1 (I) and alpha2 (I) collagen I pro-chains, in which the aminoterminal propeptide is incorrectly cleaved. The causative gene, ADAMTS2, has been localised to 5q23. The homozygous mutation Q225X was present in 80% of cases subjected to molecular analysis. There is no specific treatment available for this disease, but symptomatic management should be offered in a specialised centre.

EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE Is also known as ehlers-danlos syndrome, type vii, autosomal recessive|eds7c|dermatosparaxis|ehlers-danlos syndrome type 7c|eds viic

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Micrognathia
  • Abnormal facial shape


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE

High match X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA


X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature.

X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA Is also known as x-linked chondrodysplasia punctata type 2|cpxd|cdpxd|conradi-hunermann-happle syndrome|happle syndrome|conradi-hunermann syndrome|cdpx2|chondrodystrophia calcificans congenita|conradi-hÜnermann-happle syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Nystagmus
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA

High 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

High match MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7


Mucopolysaccharidosis type VII is an autosomal recessive lysosomal storage disease characterized by the inability to degrade glucuronic acid-containing glycosaminoglycans. The phenotype is highly variable, ranging from severe lethal hydrops fetalis to mild forms with survival into adulthood. Most patients with the intermediate phenotype show hepatomegaly, skeletal anomalies, coarse facies, and variable degrees of mental impairment (Shipley et al., 1993). MPS VII was the first autosomal mucopolysaccharidosis for which chromosomal assignment was achieved.

MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7 Is also known as beta-glucuronidase deficiency|mps vii|sly syndrome|gusb deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7

High 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

High match NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA


Noonan syndrome-like disorder with juvenile myelomonocytic leukemia is a rare, genetic, polymalformative syndrome with increased risk of developing cancer characterized by a Noonan-like phenotype, including typical dysmorphic facial features (i.e. high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), thoracic abnormalities, congenital heart defects and short stature, associated with a very frequent ocurrence of juvenile myelomonocytic leukemia. Developmental delay, ectodermal anomalies, joint laxity, and hypotonia may also be associated.

NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA Is also known as cbl mutation-associated syndrome|noonan syndrome-like disorder with jmml|cbl syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA

Top 5 symptoms//phenotypes associated to Epicanthus and Hip dysplasia

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis Motor delay Retrognathia Strabismus Ptosis Polyhydramnios Depressed nasal bridge Downslanted palpebral fissures Microcephaly Failure to thrive Abnormality of the skeletal system Inguinal hernia Seizures Growth delay Brachydactyly Short nose Talipes equinovarus Short neck Anteverted nares Frontal bossing Macrocephaly Hypertelorism Edema Muscular hypotonia Intellectual disability, moderate Kyphoscoliosis Recurrent infections Hepatosplenomegaly Severe short stature Posteriorly rotated ears Long philtrum Pectus carinatum Nystagmus Low-set ears Hip dislocation Hyperkeratosis Splenomegaly Hypertrichosis Short palm Wide nasal bridge Cryptorchidism Micrognathia Hepatomegaly Avascular necrosis of the capital femoral epiphysis Delayed speech and language development Atrial septal defect Thick vermilion border Sparse hair Hernia Postnatal growth retardation Cataract Thrombocytopenia Conductive hearing impairment Coxa valga Flexion contracture Gastroesophageal reflux Gingival overgrowth Pectus excavatum Kyphosis Prominent forehead Umbilical hernia Coarse facial features Midface retrusion Short philtrum Ventriculomegaly Hypoplasia of the corpus callosum Clinodactyly of the 5th finger Optic atrophy

Rare Symptoms - Less than 30% cases


Feeding difficulties Bilateral ptosis Femoral hernia High palate Overfolded helix Proximal placement of thumb Blue sclerae Open bite Hemivertebrae Abnormal form of the vertebral bodies Coxa vara Limb undergrowth High forehead Esotropia Cardiomyopathy Cognitive impairment Sensorineural hearing impairment Skeletal dysplasia Abnormality of the nervous system Abnormality of the pinna Flat face Microcornea Abnormality of epiphysis morphology Ascites Abnormality of pelvic girdle bone morphology Abnormality of the thorax Cubitus valgus Hemiatrophy Short metacarpal Congenital cataract Spasticity Myopathy Genu valgum Webbed neck Low-set, posteriorly rotated ears Joint hyperflexibility Wide mouth Delayed eruption of teeth Hypermetropia Dandy-Walker malformation Broad forehead Hypertension Deep philtrum Joint laxity Joint hypermobility Hydrops fetalis Bruising susceptibility Hirsutism Hypoplasia of the odontoid process Microdontia Hypodontia Short phalanx of finger Joint dislocation Spondyloepiphyseal dysplasia Pleural effusion Specific learning disability Hypertonia High, narrow palate Abnormal bleeding Thin upper lip vermilion Neurodevelopmental delay Respiratory tract infection Smooth philtrum Decreased antibody level in blood Acetabular dysplasia Postaxial polydactyly Pneumonia Intrauterine growth retardation Cerebellar atrophy Vomiting Muscular hypotonia of the trunk Aggressive behavior Polydactyly Cerebral cortical atrophy Upslanted palpebral fissure Cerebral atrophy Micromelia Intellectual disability, mild Immunodeficiency Alopecia Corneal opacity Hyperlordosis Hypertrophic cardiomyopathy Dyspnea Mandibular prognathia Arrhythmia Dilatation Progressive cerebellar ataxia Hydrocele testis Short attention span Hydrocephalus B-cell lymphoma Abnormality of the spleen Pes planus Hypochromic microcytic anemia Chylothorax Deeply set eye Platyspondyly Facial asymmetry Poor speech Lumbar hyperlordosis Widely spaced teeth Reduced factor X activity Opacification of the corneal stroma Cardiac arrest Elevated serum creatine phosphokinase Facial hypotonia Broad-based gait Spastic tetraplegia Rigidity Cerebellar hypoplasia Hypogonadism Macroglossia Tetraplegia Gait ataxia Neurodegeneration Thick eyebrow Vertigo Prominent fingertip pads Broad toe Abnormal aldolase level Abnormality of the metacarpal bones Synophrys External genital hypoplasia Myopathic facies Juvenile myelomonocytic leukemia Congenital muscular dystrophy Dyskinesia Short metatarsal Dysphonia Infantile muscular hypotonia Centrally nucleated skeletal muscle fibers Sandal gap Type I diabetes mellitus Muscle stiffness Hypergonadotropic hypogonadism Sensorimotor neuropathy Short thumb Limb ataxia Reduced prothrombin activity Rimmed vacuoles Abnormality of finger Progressive muscle weakness Recurrent upper respiratory tract infections Aplasia/Hypoplasia involving the skeletal musculature Abnormal lactate dehydrogenase activity Cerebellar cortical atrophy Metatarsus valgus Monocytosis Abnormal levels of creatine kinase in blood Pulmonary lymphangiectasia Arteritis Reduced factor IX activity Mild global developmental delay Abnormality of the cerebellar vermis Muscle flaccidity Muscle fiber necrosis Neurological speech impairment Hypoplasia of olfactory tract Muscular dystrophy Reduced factor XII activity Autophagic vacuoles Abnormality of the mediastinum Mild short stature Pterygium Falls Metaphyseal dysplasia Atrioventricular canal defect Hydroureter Abnormality of dental morphology Leukemia Pulmonic stenosis Hyporeflexia Abnormality of the foot Astigmatism Highly arched eyebrow Prominent metopic ridge Triangular face CNS hypomyelination Short long bone Drooling Lymphoma Wide intermamillary distance Cyanosis Short chin Epistaxis Short humerus Delayed epiphyseal ossification Fine hair Abnormality of cardiovascular system morphology Crumpled ear Laryngeal obstruction Broad skull Absent epiphyses Gait disturbance Respiratory distress Hypoplastic helices Squared iliac bones Lumbar scoliosis Midline defect of the nose Rectovaginal fistula Vocal cord paresis Pes valgus Delayed ossification of carpal bones Thin eyebrow Coronal cleft vertebrae Macrotia Feeding difficulties in infancy Complete atrioventricular canal defect Abnormality of the larynx Low posterior hairline Abnormality of dental enamel Abnormal eyebrow morphology Bicuspid aortic valve Pulmonary insufficiency Bilateral single transverse palmar creases Recurrent ear infections Broad ribs Nonimmune hydrops fetalis Vasculitis Dysostosis multiplex Thoracolumbar scoliosis Torticollis Poor suck Prominent sternum Cholelithiasis Spinal cord compression Thoracic kyphosis Failure to thrive in infancy Decreased muscle mass Hyperactive deep tendon reflexes Abnormal heart valve morphology Extrahepatic biliary duct atresia Metatarsus adductus Thoracolumbar kyphosis Thoracic kyphoscoliosis Congenital hip dislocation Delayed skeletal maturation Mitral regurgitation Hypoplasia of dental enamel Omphalocele Generalized muscle weakness Anal atresia Hyperpigmentation of the skin Cafe-au-lait spot Lymphedema Aortic valve stenosis Ventricular septal defect J-shaped sella turcica Anterior beaking of lower thoracic vertebrae Proximal tapering of metacarpals Decreased pulmonary function Anterior beaking of lumbar vertebrae Dermatan sulfate excretion in urine Pseudoarthrosis Snoring Heparan sulfate excretion in urine Narrow greater sacrosciatic notches Epiphyseal dysplasia Frontal open bite Areflexia Increased number of teeth Abnormality of the gingiva Clitoral hypoplasia Median cleft lip and palate Epispadias Fingernail dysplasia Bifid tongue Hypoplastic labia majora Anodontia Capillary hemangioma Long palpebral fissure Curly eyelashes Elbow dislocation Oligodontia Sacral dimple Long eyelashes Hypoplasia of penis Downturned corners of mouth Wide nose Finger syndactyly Camptodactyly of finger Hypoplastic labia minora Ridged fingernail Hypospadias Small hand Wormian bones Stereotypy Sparse scalp hair Thick lower lip vermilion Small nail Broad nasal tip Tapered finger Single transverse palmar crease Short foot Short distal phalanx of finger Abnormality of the penis Attention deficit hyperactivity disorder Anxiety Hyperactivity Constipation Clinodactyly Absent speech Cleft palate Onychogryposis of fingernail Naevus flammeus of the eyelid Euryblepharon Proptosis Type II transferrin isoform profile Narrow palpebral fissure Fair hair Elevated hepatic transaminase Hyperhidrosis Diarrhea Anemia Aberrant melanosome maturation Intermittent thrombocytopenia Congenital neutropenia Granulocytopenia Interstitial pneumonitis Ocular albinism Abnormality of the liver Periodontitis Pulmonary fibrosis Albinism Recurrent bacterial infections Neutropenia Carious teeth Photophobia Reduced visual acuity Recurrent respiratory infections Visual impairment Neonatal hypotonia Abnormal cardiac septum morphology Abnormal T cell morphology Abnormal intestine morphology Gastrointestinal inflammation Macrovesicular hepatic steatosis Micronodular cirrhosis Impaired T cell function Proximal tubulopathy Abnormal cortical gyration Combined immunodeficiency Loss of consciousness Inflammation of the large intestine Hyperbilirubinemia Arthrogryposis multiplex congenita Lymphopenia Hypohidrosis Chronic diarrhea Cholestasis Pancytopenia Decreased fetal movement Focal-onset seizure Hepatic steatosis Cirrhosis Malabsorption Finger clinodactyly Plagiocephaly Intellectual disability, severe Ichthyosis Bilateral talipes equinovarus Erythroderma Scaling skin Coarse hair Sparse eyelashes Abnormality of the fingernails Sparse and thin eyebrow Abnormal vertebral morphology Rhizomelia Talipes Congenital ichthyosiform erythroderma Erythema Hydronephrosis Glaucoma Depressivity Microphthalmia Malar flattening Abnormality of the dentition Abnormality of primary molar morphology Recurrent mandibular subluxations Abnormality of subcutaneous fat tissue Aplasia/Hypoplasia of the skin Epiphyseal stippling Gingival hyperkeratosis Punctate vertebral calcifications Skeletal muscle atrophy Dysarthria Peripheral neuropathy Muscle weakness Ataxia Stippled calcification in carpal bones Tarsal stippling Elevated 8(9)-cholestenol Elevated 8-dehydrocholesterol Tracheal calcification Foot polydactyly Hyperkeratosis with erythema Vertebral wedging Patchy alopecia Scarring alopecia of scalp Butterfly vertebrae Abnormality of hair texture Dry hair Concave nasal ridge Tracheal stenosis Patellar dislocation Spontaneous neonatal pneumothorax Enlarged naris Abnormality of the hand Osteopenia Short toe Wide anterior fontanel Large fontanelles Thin skin Premature birth Sepsis Everted lower lip vermilion Scarring Joint stiffness Osteoporosis Mutism Myopia Testicular torsion Diaphragmatic eventration Periventricular leukomalacia Tics Large forehead High anterior hairline Arachnoid cyst Infantile spasms Short middle phalanx of finger Cutis laxa Hyperextensible skin Blepharochalasis Gingival bleeding Soft, doughy skin Premature rupture of membranes Excessive wrinkled skin Delayed closure of the anterior fontanelle Generalized edema Echolalia Esophagitis Hiatus hernia Soft skin Palpebral edema Redundant skin Osteomalacia Abnormal joint morphology Fragile skin Prolonged bleeding time Delayed cranial suture closure Aphasia Dysphasia Epiphora Rickets Intracranial hemorrhage Abnormality of the subarachnoid space



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Developmental regression, related diseases and genetic alterations Arthritis and Scarring, related diseases and genetic alterations Autoimmunity and Retrognathia, related diseases and genetic alterations Fever and Lymphopenia, related diseases and genetic alterations Cognitive impairment and Pes cavus, related diseases and genetic alterations Strabismus and Pulmonic stenosis, related diseases and genetic alterations Microcephaly and Joint hypermobility, related diseases and genetic alterations

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