Epicanthus, and Abnormality of the ribs

Diseases related with Epicanthus and Abnormality of the ribs

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

Top matches:

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (OMIM ).

Related symptoms:

  • Hypertelorism
  • Epicanthus
  • Brachydactyly
  • Ventriculomegaly
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY; SRTD7 Is also known as short rib-polydactyly syndrome, type v|srps5

Related symptoms:

  • Cleft palate
  • High palate
  • Epicanthus
  • Brachydactyly
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY; SRTD7

Lethal multiple pterygium syndrome (LMPS) is a rare association of anomalies of the skin, muscles and skeleton.

LETHAL MULTIPLE PTERYGIUM SYNDROME Is also known as lmps|pterygium syndrome, multiple, lethal type|autosomal recessive lethal multiple pterygium syndrome

Related symptoms:

  • Microcephaly
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about LETHAL MULTIPLE PTERYGIUM SYNDROME

Other less relevant matches:

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).SRTD15 is characterized by narrow thorax, oral and cardiovascular anomalies, short long bones, and postaxial polydactyly, in addition to other congenital anomalies. Considerable variability in features and in severity has been reported, with some affected individuals succumbing shortly after birth and others living to adulthood, even within the same family.For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (OMIM ).

Related symptoms:

  • Short stature
  • Scoliosis
  • Abnormal facial shape
  • Low-set ears
  • Depressed nasal bridge


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY; SRTD15

8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism.

8P11.2 DELETION SYNDROME Is also known as del(8)(p11.2)|monosomy 8p11.2

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about 8P11.2 DELETION SYNDROME

Diaphanospondylodysostosis is characterized by absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate.

DIAPHANOSPONDYLODYSOSTOSIS Is also known as vertebral ossification, defect in, with nephrogenic rests

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Micrognathia
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about DIAPHANOSPONDYLODYSOSTOSIS

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

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about NOONAN SYNDROME 6; NS6

Sillence syndrome (brachydactyly-symphalangism syndrome) resembles type A1 brachydactyly (variable shortening of the middle phalanges of all digits) with associated symphalangism (producing a distal phalanx with the shape of a chess pawn). Scoliosis, clubfoot and tall stature are also characteristic.

SILLENCE SYNDROME Is also known as synostoses, multiple, with brachydactyly|symphalangism-brachydactyly syndrome|wl syndrome|brachydactyly-symphalangism syndrome|facioaudiosymphalangism syndrome|deafness-symphalangism syndrome of herrmann

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Strabismus
  • Epicanthus
  • Brachydactyly


SOURCES: OMIM ORPHANET MENDELIAN

More info about SILLENCE SYNDROME

Low match MONOSOMY 9Q22.3

Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children.

MONOSOMY 9Q22.3 Is also known as microdeletion 9q22.3

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Muscular hypotonia


SOURCES: ORPHANET MESH MENDELIAN

More info about MONOSOMY 9Q22.3

Top 5 symptoms//phenotypes associated to Epicanthus and Abnormality of the ribs

Symptoms // Phenotype % cases
Hypertelorism Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases
Depressed nasal bridge Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Brachydactyly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Respiratory insufficiency Growth delay Polydactyly Oral cleft Pulmonary hypoplasia Hearing impairment Micrognathia Abnormal facial shape Thoracic dysplasia Intellectual disability Generalized hypotonia Muscular hypotonia Edema Cleft palate Cystic hygroma Short stature Downslanted palpebral fissures Syndactyly Macrocephaly Cleft lip Narrow chest Short ribs Postaxial polydactyly

Rare Symptoms - Less than 30% cases

Motor delay Sensorineural hearing impairment Respiratory distress Microcephaly Scoliosis Intrauterine growth retardation Protuberant abdomen Webbed neck Polyhydramnios Depressed nasal ridge Spinal canal stenosis Strabismus Small nail Short finger Flat acetabular roof Pectus excavatum Bilateral postaxial polydactyly Thoracic hypoplasia Short nose Feeding difficulties Ventriculomegaly Hydrocephalus Thin upper lip vermilion Platyspondyly Micromelia Polycystic kidney dysplasia High palate Short neck Sparse hair Talipes equinovarus Splenomegaly Cryptorchidism Seizures Mesomelia Patent ductus arteriosus Nail dysplasia Delayed eruption of teeth Limb undergrowth Renal cyst Wide nose Broad neck Short foot Narrow face Asymmetry of the thorax Long eyebrows Juvenile myelomonocytic leukemia Broad thumb Abnormal vertebral morphology Waddling gait Clinodactyly Pes cavus Underdeveloped nasal alae Camptodactyly Short metacarpal Pectus carinatum Single transverse palmar crease Short philtrum Conductive hearing impairment Wide nasal bridge Curly hair Widely patent fontanelles and sutures Secondary hyperparathyroidism Sparse bone trabeculae Enlargement of the ankles Bulging epiphyses Abdominal wall muscle weakness Enlargement of the wrists Fibular bowing Deformed rib cage Hypocalcemic seizures Difficulty standing Generalized aminoaciduria Alopecia universalis Alopecia totalis Thin bony cortex Elevated circulating parathyroid hormone level Increased serum 1,25-dihydroxyvitamin D3 Bulging of the costochondral junction Bilateral ptosis High forehead Relative macrocephaly Cafe-au-lait spot Growth hormone deficiency Pulmonic stenosis Leukemia Broad forehead Hypertrophic cardiomyopathy Hyperkeratosis Subperiosteal bone resorption Abnormal heart morphology Intellectual disability, mild Cardiomyopathy Myopia Abnormal dermatoglyphics Delayed speech and language development Ptosis Abnormality of the nail Short lower limbs Back pain Cataract Umbilical hernia Narrow mouth Hyperactivity Microphthalmia Long philtrum Kyphosis Abnormality of the proximal phalanx of the hallux Joint hyperflexibility Abnormality of the proximal phalanges of the hand Fusion of midphalangeal joints Hypoplastic spinal processes Chess-pawn distal phalanges Large tarsal bones Progressive conductive hearing impairment Retinopathy Tall stature Hypoplastic nasal septum Metopic synostosis Odontogenic keratocysts of the jaw Plantar pits Thickened ears Ovarian fibroma Calcification of falx cerebri Palmar pits Rhabdomyosarcoma Accelerated skeletal maturation Medulloblastoma Abnormality of the vertebral column Basal cell carcinoma Large for gestational age Nephroblastoma Trigonocephaly Arnold-Chiari malformation Bulbous tips of toes Cervical spinal canal stenosis Cubitus valgus Short humerus Slender build Short 1st metacarpal Thick upper lip vermilion Short hallux Carpal synostosis Ankylosis Dislocated radial head Short upper lip Cutaneous finger syndactyly Tarsal synostosis Anonychia Metatarsus adductus 2-3 toe syndactyly Short middle phalanx of finger Radial deviation of finger Short sternum Aplastic/hypoplastic toenail Intervertebral disc degeneration Enlargement of the costochondral junction Stapes ankylosis Distal symphalangism Absent distal interphalangeal creases Abnormality of the distal phalanx of finger Large iliac wings Absent distal phalanges Proximal symphalangism of hands Premature loss of teeth Proximal symphalangism Broad metacarpals Broad metatarsal Aplasia of the middle phalanx of the hand Aplasia/Hypoplasia of the middle phalanges of the hand Oval face Lower limb undergrowth Delayed epiphyseal ossification Nephrogenic rest Osteomalacia Cone-shaped epiphysis Fetal akinesia sequence Multiple pterygia Hypoplastic heart Amyoplasia Abnormal cervical curvature Hepatomegaly Skeletal dysplasia Hepatosplenomegaly Cleft upper lip Hypodontia Postaxial hand polydactyly Coarctation of aorta Horseshoe kidney Cutaneous syndactyly Atrioventricular canal defect Malignant hyperthermia Metaphyseal dysplasia Hamartoma Increased number of teeth Short clavicles Median cleft lip Vaginal atresia Complete atrioventricular canal defect Horizontal ribs Accessory oral frenulum Hydrometrocolpos Hypoplasia of the epiglottis Partial atrioventricular canal defect Nystagmus Atrial septal defect Meningocele Thin ribs Hypogonadism Hydrops fetalis Intestinal malrotation Preaxial polydactyly Hypoplastic ischia Vertebral wedging Renal insufficiency Hypospadias Dolichocephaly Hepatic failure Short distal phalanx of finger Ascites Microdontia Renal hypoplasia Fine hair Bowing of the long bones Short long bone Vertebral fusion Hernia Akinesia Pterygium Increased susceptibility to fractures Joint dislocation Lymphedema Congenital diaphragmatic hernia Fever Aplasia/Hypoplasia of the eyebrow Flexion contracture Short uvula Fused teeth Short lingual frenulum Hypoplastic scapulae Agenesis of permanent teeth Upslanted palpebral fissure Blepharophimosis Hyperparathyroidism Papule Absent or minimally ossified vertebral bodies Nephroblastomatosis Unossified vertebral bodies Abnormal liver lobulation Lumbosacral meningocele Absent in utero rib ossification Unossified sacrum Absent in utero ossification of vertebral bodies Intralobar nephroblastomatosis Failure to thrive Frontal bossing Alopecia Difficulty walking Irritability Carious teeth Narrow pelvis bone Recurrent fractures Abnormality of the skin Hypoplasia of dental enamel Bone pain Hypocalcemia Aminoaciduria Elevated alkaline phosphatase Rickets Metaphyseal irregularity Flat occiput Bowing of the legs Hypophosphatemia Femoral bowing Tibial bowing Abnormal vertebral segmentation and fusion Increased nuchal translucency Iris coloboma Inguinal hernia Hemolytic anemia Retinal dystrophy Microcornea Mitral valve prolapse Hypoplasia of penis Hypogonadotrophic hypogonadism Azoospermia Sacral dimple Anosmia Preauricular pit External ear malformation Abnormality of the hypothalamus-pituitary axis Spherocytosis Supernumerary ribs Polymicrogyria Enlarged thorax Multiple renal cysts Cystic renal dysplasia Disproportionate short-trunk short stature Hypoplastic fingernail Missing ribs Myelomeningocele Bell-shaped thorax Enlarged kidney Oligohydramnios Tracheomalacia Vertebral segmentation defect Short thorax Hammertoe Large fontanelles Renal dysplasia Cardiac fibroma


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Myopia and Primary amenorrhea, related diseases and genetic alterations Delayed speech and language development and Atrial septal defect, related diseases and genetic alterations Lymphoma and Lymphopenia, related diseases and genetic alterations