Hypertelorism, and Narrow chest

Diseases related with Hypertelorism and Narrow chest

In the following list you will find some of the most common rare diseases related to Hypertelorism and Narrow chest 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

Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA Is also known as congenital spondyloepiphyseal dysplasia|spranger-wiedemann disease|sedc

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA

Antley-Bixler syndrome is a very rare disorder characterised by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.

Related symptoms:

  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Downslanted palpebral fissures
  • Frontal bossing


SOURCES: ORPHANET MENDELIAN

More info about ANTLEY-BIXLER SYNDROME

Other less relevant matches:

Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome is a life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair.

JUNCTIONAL EPIDERMOLYSIS BULLOSA WITH RESPIRATORY AND RENAL INVOLVEMENT Is also known as jeb-rr|jeb with respiratory and renal involvement|congenital interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome|congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome|congenital ilneb syndrome|conge

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Muscular hypotonia
  • Fever
  • Respiratory distress


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUNCTIONAL EPIDERMOLYSIS BULLOSA WITH RESPIRATORY AND RENAL INVOLVEMENT

Sweeney-Cox syndrome is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears (Kim et al., 2017).

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about SWEENEY-COX SYNDROME; SWCOS

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}).

Related symptoms:

  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Low-set ears
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY; SRTD20

Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM; see this terms) characterized by distal muscle weakness, and sometimes slowness of muscle contraction.

CHILDHOOD-ONSET NEMALINE MYOPATHY Is also known as mild nemaline myopathy

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Ptosis


SOURCES: ORPHANET MENDELIAN

More info about CHILDHOOD-ONSET NEMALINE MYOPATHY

Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Cryptorchidism
  • Respiratory insufficiency
  • Microphthalmia


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY; SRTD13

Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome is a rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (incl. larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (esp. of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA-SHORT LIMB-ABNORMAL CALCIFICATION SYNDROME Is also known as smed, short limb-hand type|smed, type ii|smed-sl|smed, short limb-abnormal calcification type|smed-sl/ac|spondylometaepiphyseal dysplasia, short limb-abnormal calcification type

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA-SHORT LIMB-ABNORMAL CALCIFICATION SYNDROME

Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.

CRANIOLENTICULOSUTURAL DYSPLASIA Is also known as boyadjiev-jabs syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CRANIOLENTICULOSUTURAL DYSPLASIA

Top 5 symptoms//phenotypes associated to Hypertelorism and Narrow chest

Symptoms // Phenotype % cases
Cleft palate Common - Between 50% and 80% cases
High palate Uncommon - Between 30% and 50% cases
Midface retrusion Uncommon - Between 30% and 50% cases
Frontal bossing Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hypertelorism and Narrow chest. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Short ribs Micrognathia Cleft lip Thoracic dysplasia Narrow mouth Respiratory insufficiency Platyspondyly Skeletal dysplasia Long philtrum Wide anterior fontanel Anal atresia Short stature Brachycephaly Wide nasal bridge Polydactyly Micromelia Cryptorchidism Postaxial polydactyly Preaxial polydactyly

Rare Symptoms - Less than 30% cases

Malar flattening Choanal atresia Abnormal facial shape Gastroesophageal reflux Proptosis Global developmental delay Craniosynostosis Prominent nose Horizontal ribs Limb undergrowth Natal tooth Delayed speech and language development Pulmonary hypoplasia Microphthalmia Cerebellar hypoplasia Muscular hypotonia Prominent forehead Macrotia Thoracic hypoplasia Low-set ears Microtia Recurrent pneumonia Bell-shaped thorax Talipes Short neck Hearing impairment Cataract Talipes equinovarus Syndactyly Generalized hypotonia Short nose Anteverted nares Oral cleft Thin upper lip vermilion Occipital encephalocele Fetal akinesia sequence Flat acetabular roof Hypoplastic pelvis Bifid tongue Cleft soft palate Lobulated tongue Squared iliac bones Hypoplastic facial bones Exercise intolerance Increased variability in muscle fiber diameter Respiratory insufficiency due to muscle weakness Depressed nasal bridge Facial diplegia EMG: myopathic abnormalities Neck muscle weakness Spinal rigidity Scapular winging Mildly elevated creatine phosphokinase Unicoronal synostosis Respiratory failure Molar tooth sign on MRI Renal hypoplasia Patent ductus arteriosus Neuromuscular dysphagia Renal cyst Fatigable weakness of bulbar muscles Increased muscle lipid content Generalized limb muscle atrophy Reduced vital capacity Dandy-Walker malformation Poor fine motor coordination Slender build Ambiguous genitalia Cerebellar vermis hypoplasia Bulbar signs Encephalocele Breech presentation Omphalocele Bowing of the long bones Type 1 muscle fiber predominance Nemaline bodies Renal dysplasia Rhizomelia Spontaneous abortion Microretrognathia Relative macrocephaly Coarse facial features Abnormality of the neck Pectus excavatum Abnormality of skin pigmentation Esotropia Bifid uvula Hypoplasia of the maxilla Delayed eruption of teeth Wide nose Thin vermilion border Smooth philtrum Large fontanelles Joint hyperflexibility Pulmonic stenosis Carious teeth Prominent nasal bridge Sparse hair Wide mouth Microdontia Hyperpigmentation of the skin Pes planus Hypoplasia of teeth Punctate cataract Posterior wedging of vertebral bodies Posterior Y-sutural cataract Sutural cataract High iliac wings Narrow iliac wings Delayed closure of the anterior fontanelle Hemangioma Decreased skull ossification Capillary hemangioma Premature loss of teeth Brittle hair Prominent supraorbital ridges Coarse hair Joint laxity Osteopenia Short palm Bowing of the legs Spinal cord compression Epiphyseal stippling Syringomyelia Hypoplasia of the odontoid process Restrictive ventilatory defect Flared metaphysis Metatarsus adductus Spondyloepimetaphyseal dysplasia Short long bone Disproportionate short-limb short stature Knee flexion contracture Elbow flexion contracture Short phalanx of finger Short metacarpal Narrow face Flared iliac wings Optic atrophy Small foramen magnum Macrocephaly Failure to thrive Progressive calcification of costochondral cartilage Triangular shaped distal phalanges of the hand Abnormal calcification of the carpal bones Tracheal calcification Posterior rib cupping Anterior rib cupping C1-C2 subluxation Calcification of falx cerebri Long fibula Atlantoaxial instability Broad metacarpals Broad phalanx Hip subluxation Muscle stiffness Long thorax Clumsiness Respiratory tract infection Underdeveloped supraorbital ridges Turricephaly Hypoplasia of the zygomatic bone Abnormal renal morphology Narrow pelvis bone Elbow ankylosis Microcephaly Fever Respiratory distress Renal insufficiency Pneumonia Recurrent respiratory infections Proteinuria Erythema Delayed cranial suture closure Nail dystrophy Round face Abnormal blistering of the skin Cyanosis Nephrotic syndrome Fine hair Sparse scalp hair Abnormal lung morphology Sparse and thin eyebrow Gynecomastia Sparse eyelashes Hypoalbuminemia Glomerulosclerosis Femoral bowing Abnormality of the ribs Focal segmental glomerulosclerosis Broad forehead Brachydactyly Ventriculomegaly Hydrocephalus Intestinal malrotation Polycystic kidney dysplasia Cystic hygroma Hypoplastic ischia Vertebral wedging Nystagmus Myopia Kyphosis Glaucoma Hyperlordosis Flat face Recurrent fractures Retinal detachment Limitation of joint mobility Osteoarthritis Abnormality of epiphysis morphology Coxa vara Short thorax Strabismus Downslanted palpebral fissures Abnormality of cardiovascular system morphology Low-set, posteriorly rotated ears Joint stiffness Camptodactyly of finger Arachnodactyly Neonatal respiratory distress Ectopic kidney Bradykinesia Ptosis Lateral clavicle hook Uterus didelphys Hypoplastic pubic bone Epicanthus Hamartoma of tongue Multiple skeletal anomalies Laryngeal hypoplasia Septate vagina Decreased calvarial ossification Large posterior fontanelle Absent nasal bridge Narrow sacroiliac notch Esophageal diverticulum Flexion contracture Short tibia Feeding difficulties Motor delay Cardiomyopathy Myopathy Areflexia Hyporeflexia Pes cavus Polyhydramnios Difficulty walking Arthrogryposis multiplex congenita Limb muscle weakness Long face Waddling gait Complete atrioventricular canal defect Fibular hypoplasia Interstitial pulmonary abnormality Cupped ear Fragile skin Tubular atrophy Onycholysis Decreased glomerular filtration rate Crossed fused renal ectopia Respiratory acidosis Junctional split Short philtrum Hirsutism Underdeveloped nasal alae Generalized hirsutism Cutaneous syndactyly Overfolded helix Bilateral talipes equinovarus Low posterior hairline Long fingers Prominent metopic ridge Short clavicles Broad neck Short columella Asplenia Widow's peak Velopharyngeal insufficiency Median cleft palate Upper eyelid coloboma Abnormality of the skeletal system Micropenis Abnormality of the pinna Tetralogy of Fallot Forehead hyperpigmentation


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