Depressed nasal bridge, and Blue sclerae

Diseases related with Depressed nasal bridge and Blue sclerae

In the following list you will find some of the most common rare diseases related to Depressed nasal bridge and Blue sclerae that can help you solving undiagnosed cases.


Top matches:

High match EHLERS-DANLOS SYNDROME TYPE 7B


Arthrochalasia-type EDS is distinguished from other types of EDS by the frequency of congenital hip dislocation and extreme joint laxity with recurrent joint subluxations and minimal skin involvement (Byers et al., 1997; Giunta et al., 2008).For a discussion of genetic heterogeneity of arthrochalasia-type EDS, see {130060}.

EHLERS-DANLOS SYNDROME TYPE 7B Is also known as eds viib|ehlers-danlos syndrome, type viib, autosomal dominant|eds7b

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Micrognathia
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME TYPE 7B

High match ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3


The clinical description of Robinow syndrome includes mesomelia, normal intellect, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge, which are collectively referred to as a 'fetal face' (summary by White et al., 2016).For a discussion of genetic heterogeneity in Robinow syndrome, see RRS (OMIM ).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3

High match FRONTOMETAPHYSEAL DYSPLASIA 2; FMD2


Frontometaphyseal dysplasia (FMD) is a progressive sclerosing skeletal dysplasia characterized by supraorbital hyperostosis, undermodeling of the small bones, and small and large joint contractures, as well as extraskeletal developmental abnormalities, primarily of the cardiorespiratory system and genitourinary tract. Patients with FMD2 appear to have a propensity for keloid formation (summary by Wade et al., 2016).For a discussion of genetic heterogeneity of frontometaphyseal dysplasia, see FMD1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about FRONTOMETAPHYSEAL DYSPLASIA 2; FMD2

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Other less relevant matches:

High match OPSISMODYSPLASIA


Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism.

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hypertelorism
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about OPSISMODYSPLASIA

High match GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME


Goldberg-Shprintzen megacolon syndrome is a multiple malformation syndrome characterized by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability.

GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME Is also known as goldberg-shprintzen megacolon syndrome|goshs|megacolon-microcephaly syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME

High match DESBUQUOIS SYNDROME


Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity with multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. A variant form of DBQD, Kim variant (see these terms), has also been described and is characterized by short stature and articular, minor facial and significant hand anomalies.

DESBUQUOIS SYNDROME Is also known as desbuquois dysplasia|dbqd

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about DESBUQUOIS SYNDROME

High match ADAMS-OLIVER SYNDROME 2; AOS2


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

High match AUTOSOMAL RECESSIVE ROBINOW SYNDROME


Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS, see this term) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia.

AUTOSOMAL RECESSIVE ROBINOW SYNDROME Is also known as covesdem syndrome|rrs|costovertebral segmentation defect-mesomelia syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE ROBINOW SYNDROME

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

High match DIASTROPHIC DWARFISM


Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips).

DIASTROPHIC DWARFISM Is also known as diastrophic dysplasia|dd

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about DIASTROPHIC DWARFISM

Top 5 symptoms//phenotypes associated to Depressed nasal bridge and Blue sclerae

Symptoms // Phenotype % cases
Scoliosis Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Macrocephaly Common - Between 50% and 80% cases
Short neck Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Depressed nasal bridge and Blue sclerae. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Micrognathia

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Cleft palate Cryptorchidism Low-set ears Brachydactyly Wide nasal bridge Anteverted nares Hearing impairment Generalized hypotonia Long philtrum Pectus excavatum Ventricular septal defect Frontal bossing Midface retrusion Broad thumb Long eyelashes Downslanted palpebral fissures Epicanthus Short philtrum Disproportionate short-limb short stature Severe short stature Short nose Proptosis Kyphosis Camptodactyly of finger Elbow dislocation Talipes equinovarus Umbilical hernia Short phalanx of finger Gingival overgrowth Abnormal facial shape Flexion contracture Global developmental delay Alopecia Skeletal dysplasia Muscular hypotonia Downturned corners of mouth Short long bone Abnormality of the metaphysis Short metacarpal Small hand Coxa valga Micromelia Strabismus Recurrent respiratory infections Finger syndactyly Ptosis Upslanted palpebral fissure Clinodactyly of the 5th finger Joint dislocation Clinodactyly Pectus carinatum Growth delay Joint hyperflexibility Low-set, posteriorly rotated ears Hip dislocation

Rare Symptoms - Less than 30% cases


Bulbous nose Tapered finger Relative macrocephaly Wide anterior fontanel Abnormality of epiphysis morphology Obesity Limb undergrowth Oligodontia Short foot Inguinal hernia Short palm Specific learning disability Narrow chest Wide mouth Joint stiffness Hip dysplasia Hypoplasia of penis Thick vermilion border Respiratory insufficiency Fingernail dysplasia Increased number of teeth Bell-shaped thorax Ventriculomegaly Ulnar deviation of the hand Protruding ear Short distal phalanx of finger Polymicrogyria Coxa vara Sacral dimple Cerebellar hypoplasia Hypospadias Hypoplasia of the corpus callosum Wide intermamillary distance Bifid tongue Posteriorly rotated ears Microcephaly Single transverse palmar crease Short finger Seizures Abnormal heart morphology Open bite Long palpebral fissure Synophrys Hypodontia Abnormal form of the vertebral bodies Intrauterine growth retardation Patent foramen ovale Low anterior hairline Bowing of the long bones Full cheeks Hirsutism Thick eyebrow Camptodactyly Mesomelia Telecanthus Abnormality of the genitourinary system Patent ductus arteriosus Hyperextensible skin Congenital hip dislocation Osteoarthritis Joint laxity Pes planus Gastroesophageal reflux Pointed chin Webbed neck Prominent supraorbital ridges Hip contracture Symphalangism affecting the phalanges of the hand High-pitched cry Aplasia cutis congenita Femoral hernia Corpus callosum atrophy Ulnar deviation of the wrist Spinal deformities Periventricular leukomalacia Avascular necrosis of the capital femoral epiphysis Aplasia cutis congenita of scalp Retinal fold Retrocerebellar cyst Cutis marmorata telangiectatica congenita Irregular epiphyses Cervical kyphosis Neonatal short-limb short stature Retinal nonattachment Atrial septal defect Abnormality of the dentition Flattened epiphysis Hydronephrosis Toe syndactyly Oral cleft Visceral angiomatosis Lethal skeletal dysplasia Adactyly Hitchhiker thumb Large earlobe Muscular hypotonia of the trunk Syndactyly Microphthalmia Cerebral atrophy Cystic lesions of the pinnae Dilatation Depressivity Costal cartilage calcification Laryngotracheal stenosis Agenesis of corpus callosum Clitoral hypoplasia Deeply set eye Abnormality of the nervous system Congenital cataract Cutis marmorata Median cleft lip and palate Retinal detachment Gliosis Oligohydramnios Epispadias Small nail Lymphedema Narrow palpebral fissure Cerebral palsy Glabellar hemangioma Dermal atrophy Hypoplastic cervical vertebrae Tetralogy of Fallot Thoracic dysplasia Onychogryposis of fingernail Exaggerated cupid's bow Cerebral calcification Rib fusion Abnormal aortic morphology Talipes Ankyloglossia Abnormality of the foot Abnormal tricuspid valve morphology Abnormal pulmonary valve morphology Arthrogryposis multiplex congenita Hemivertebrae Hypertonia Arthralgia Ectopic anus Hypoplastic female external genitalia Abnormality of the penis Prominent forehead Kyphoscoliosis Euryblepharon Naevus flammeus of the eyelid High, narrow palate Pneumonia Abnormality of cardiovascular system morphology Wide nose Pain Retrognathia Broad hallux phalanx Nevus flammeus Hypoplastic labia majora Ridged fingernail Curly eyelashes Spinal cord compression Split hand Abnormality of the clavicle Bilateral single transverse palmar creases Multicystic kidney dysplasia Sandal gap Abnormal palate morphology Abnormality of the gingiva Anodontia Overweight Tented upper lip vermilion Ulnar deviation of finger Synostosis of carpal bones Proximal placement of thumb Overfolded helix Abnormality of the metacarpal bones Abnormality of the outer ear Hoarse voice Increased bone mineral density Chronic otitis media Interphalangeal joint contracture of finger Vertebral segmentation defect Abnormality of the hip bone Capillary hemangioma Abnormality of the ribs Hypoplastic labia minora Highly arched eyebrow Hydrocephalus Neurogenic bladder Bifid uvula Finger clinodactyly Bicuspid aortic valve Deep philtrum Short metatarsal Pyloric stenosis Stridor Hyperostosis Decreased muscle mass Dislocated radial head Pierre-Robin sequence Tracheal stenosis Ulcerative colitis Fused cervical vertebrae Delayed puberty Subglottic stenosis Sclerotic vertebral endplates Large joint dislocations Hepatomegaly Edema Splenomegaly Delayed skeletal maturation Respiratory failure Polyhydramnios Respiratory tract infection Platyspondyly Large fontanelles Rhizomelia Recurrent pneumonia Broad nasal tip Pulmonic stenosis Flat occiput Poor wound healing Muscle weakness Hernia Osteoporosis Hyperlordosis Joint hypermobility Bruising susceptibility Recurrent fractures Wormian bones Delayed gross motor development Hallux valgus Atrophic scars Fragile skin Soft skin Hyperextensibility of the finger joints Excessive wrinkled skin Scarring Subcutaneous hemorrhage Cleft lip Dental malocclusion Tricuspid regurgitation Agenesis of permanent teeth Anteriorly placed anus Pulmonary artery atresia Hypoplastic right heart Sensorineural hearing impairment High palate Intellectual disability, mild Conductive hearing impairment Feeding difficulties in infancy Abnormality of the pinna Metaphyseal irregularity Hypophosphatemia Optic atrophy Short femoral neck Corneal erosion Corneal ulceration Respiratory distress Glaucoma Postnatal growth retardation Hypotrichosis Flat face Round face Accelerated skeletal maturation Radioulnar synostosis Metaphyseal widening Epiphyseal dysplasia Acne Truncal obesity Hypoplasia of the brainstem Short clavicles Abnormal eyelash morphology Broad foot Patellar dislocation Genu recurvatum Broad ribs Aplasia/Hypoplasia of the abdominal wall musculature Toe clinodactyly Advanced ossification of carpal bones Knee dislocation Abnormality of the femoral neck or head region Spasticity Delayed speech and language development Visual impairment Megalocornea Bifid scrotum Protuberant abdomen Macrotia Delayed epiphyseal ossification Flat acetabular roof Metaphyseal cupping Renal phosphate wasting Hypoplastic ischia Hypoplastic vertebral bodies Vertebral hypoplasia Anterior rib cupping Hypoplastic pubic bone Abnormally ossified vertebrae Squared iliac bones Severe platyspondyly Posterior rib cupping Constipation Craniosynostosis Sparse eyebrow Sparse hair Coloboma Prominent nasal bridge Severe global developmental delay Iris coloboma Everted lower lip vermilion Hypoplasia of the maxilla Sloping forehead Optic disc pallor Sparse scalp hair Pachygyria Aganglionic megacolon Sparse and thin eyebrow Progressive microcephaly Hypertrophic auricular cartilage



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Intellectual disability, mild, related diseases and genetic alterations Congestive heart failure and Dysarthria, related diseases and genetic alterations Brachydactyly and Joint hyperflexibility, related diseases and genetic alterations

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