Depressed nasal bridge, and Rhizomelia

Diseases related with Depressed nasal bridge and Rhizomelia

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


Top matches:

High match WEISSENBACHER- ZWEYMULLER SYNDROME


Weissenbacher-Zweymuller syndrome (WZS) is characterized by short stature at birth, neonatal micrognathia, cleft palate, rhizomelic chondrodysplasia with 'dumbbell' shaped arm and leg bones, hypertelorism and vertebral coronal clefts.

WEISSENBACHER- ZWEYMULLER SYNDROME Is also known as heterozygous otospondylomegaepiphyseal dysplasia|heterozygous osmed|pierre robin sequence-fetal chondrodysplasia syndrome|pierre robin syndrome-fetal chondrodysplasia syndrome

Related symptoms:

  • Hypertelorism
  • Micrognathia
  • Muscular hypotonia
  • Cleft palate
  • Delayed speech and language development


SOURCES: ORPHANET MENDELIAN

More info about WEISSENBACHER- ZWEYMULLER SYNDROME

High match ATELOSTEOGENESIS TYPE III


Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.

ATELOSTEOGENESIS TYPE III Is also known as aoiii|ao3|atelosteogenesis type 3

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Cleft palate
  • Depressed nasal bridge
  • Frontal bossing


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ATELOSTEOGENESIS TYPE III

High match AUTOSOMAL DOMINANT OMODYSPLASIA


Omodysplasia-2 (OMOD2) is a rare autosomal dominant skeletal dysplasia characterized by shortened humeri, shortened first metacarpal, and craniofacial dysmorphism. See also OMOD1 (OMIM ).

AUTOSOMAL DOMINANT OMODYSPLASIA Is also known as omodysplasia, autosomal dominant

Related symptoms:

  • Hypertelorism
  • Micrognathia
  • Cryptorchidism
  • Depressed nasal bridge
  • Frontal bossing


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT OMODYSPLASIA

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Other less relevant matches:

High match METAPHYSEAL CHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA


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

High match RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2


Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life. RCDP1 (OMIM ) is the most frequent form of RCDP (summary by Wanders and Waterham, 2005). Whereas RCDP1 is a peroxisomal biogenesis disorder (PBD), RCDP2 is classified as a single peroxisome enzyme deficiency (Waterham and Ebberink, 2012).For a discussion of genetic heterogeneity of rhizomelic chondrodysplasia punctata, see {215100}.

RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2 Is also known as chondrodysplasia punctata, rhizomelic, due to dihydroxyacetonephosphate acyltransferase deficiency|gnpat deficiency|dihydroxyacetonephosphate acyltransferase deficiency|peroxisomal dihydroxyacetonephosphate acyltransferase deficiency|dhapat deficiency|gly

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2

High match SEVERE ACHONDROPLASIA-DEVELOPMENTAL DELAY-ACANTHOSIS NIGRICANS SYNDROME


Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is characterised by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3).

SEVERE ACHONDROPLASIA-DEVELOPMENTAL DELAY-ACANTHOSIS NIGRICANS SYNDROME Is also known as saddan|saddan dysplasia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE ACHONDROPLASIA-DEVELOPMENTAL DELAY-ACANTHOSIS NIGRICANS SYNDROME

High match BLOMSTRAND LETHAL CHONDRODYSPLASIA


Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia (see this term) characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality.

BLOMSTRAND LETHAL CHONDRODYSPLASIA Is also known as blomstrand chondrodysplasia|blomstrand osteochondrodysplasia|chondrodysplasia, blomstrand type|bocd|blc

Related symptoms:

  • Micrognathia
  • Cataract
  • Low-set ears
  • Depressed nasal bridge
  • Anteverted nares


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BLOMSTRAND LETHAL CHONDRODYSPLASIA

High match ACHONDROPLASIA


Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACHONDROPLASIA

High match AUTOSOMAL RECESSIVE OMODYSPLASIA


Omodysplasia-1 (OMOD1) is a rare autosomal recessive skeletal dysplasia characterized by severe congenital micromelia with shortening and distal tapering of the humeri and femora to give a club-like appearance. Typical facial features include a prominent forehead, frontal bossing, short nose with a depressed broad bridge, short columella, anteverted nostrils, long philtrum, and small chin. Variable findings are cryptorchidism, hernias, congenital heart defects, and cognitive delay (Elcioglu et al., 2004; Albano et al., 2007). Genetic Heterogeneity of OmodysplasiaIn an autosomal dominant form of omodysplasia (OMOD2 ), abnormalities are limited to the upper limbs. The facial changes and typical growth defect of the distal humerus with complex deformity of the elbows appear to be similar in both entities (Baxova et al., 1994).

AUTOSOMAL RECESSIVE OMODYSPLASIA Is also known as omodysplasia, generalized form|micromelic dysplasia-dislocation of radius syndrome|omodysplasia, autosomal recessive|micromelic dysplasia, congenital, with dislocation of radius

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Micrognathia
  • Cryptorchidism


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE OMODYSPLASIA

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

Top 5 symptoms//phenotypes associated to Depressed nasal bridge and Rhizomelia

Symptoms // Phenotype % cases
Severe short stature Common - Between 50% and 80% cases
Skeletal dysplasia Common - Between 50% and 80% cases
Frontal bossing Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Malar flattening Disproportionate short-limb short stature Micromelia Anteverted nares Elbow dislocation Short nose Long philtrum Short palm Intellectual disability Limb undergrowth Mesomelia Muscular hypotonia Epicanthus Global developmental delay Short humerus Macrocephaly Platyspondyly Abnormality of the metaphysis Narrow chest Hypertelorism Generalized hypotonia Midface retrusion Short neck Scoliosis

Rare Symptoms - Less than 30% cases


Neonatal short-limb short stature Limited elbow extension Microcephaly Cataract Wide nasal bridge Intellectual disability, severe Hypoplasia of the maxilla Large fontanelles Abnormality of pelvic girdle bone morphology Seizures Hydrocephalus Kyphosis Respiratory failure Craniosynostosis Conductive hearing impairment Lumbar hyperlordosis Wide anterior fontanel Metaphyseal cupping Short metacarpal Protuberant abdomen Brachydactyly Flared metaphysis Abnormality of epiphysis morphology Bowing of the long bones Cleft palate Joint stiffness Acanthosis nigricans Polyhydramnios Edema Low-set ears Proptosis Short long bone Tapered finger Irregular vertebral endplates Squared iliac bones Cryptorchidism Flat acetabular roof Hypoplastic distal humeri Large forehead Limited elbow flexion/extension Dislocated radial head Tibial bowing Abnormality of the skeletal system Sudden cardiac death Dental malocclusion Abnormality of the ribs Abnormally ossified vertebrae Hypoplastic pubic bone Abnormal form of the vertebral bodies Renal phosphate wasting Dental crowding Clonus Delayed skeletal maturation Wormian bones Genu varum Metaphyseal irregularity Pectus excavatum Chronic otitis media Splenomegaly Disproportionate short stature Flat occiput Joint hyperflexibility Neurological speech impairment Recurrent respiratory infections Intrauterine growth retardation Relative macrocephaly Distal shortening of limbs Prominent supraorbital ridges Advanced tarsal ossification Laryngeal calcification Recurrent pneumonia Hyperreflexia Dysarthria Broad thumb Ventriculomegaly Respiratory tract infection Obesity Hyperhidrosis Blue sclerae Apnea Short foot Small hand Hyperlordosis Wide mouth Severe platyspondyly Obstructive sleep apnea Spinal canal stenosis Respiratory insufficiency Abnormality of the elbow Short tibia Short chin Narrow palpebral fissure Hemangioma Bell-shaped thorax Broad clavicles Hypoplastic vertebral bodies Pterygium Fibular hypoplasia Pulmonary artery stenosis Delayed epiphyseal ossification Blepharophimosis Short columella Abnormality of femur morphology Increased nuchal translucency Axillary pterygium Abnormality of the radius Popliteal pterygium Severe short-limb dwarfism Limited hip movement Limited elbow flexion Flat face Vertebral hypoplasia Diaphyseal thickening Abnormality of the ilium Hypoplastic ischia Anterior rib cupping Long thorax Hepatomegaly Aplasia/hypoplasia of the extremities Anterolateral radial head dislocation Narrow sacroiliac notch Hypophosphatemia Childhood onset short-limb short stature Limited knee flexion/extension Limited knee extension Acromelia Ventricular septal defect Atrial septal defect Abnormality of cardiovascular system morphology Hernia Limited knee flexion Increased fibular diameter Posteriorly rotated ears Prominent forehead Umbilical hernia Abnormal heart morphology Central apnea Advanced ossification of carpal bones Dilatation Micropenis Ambiguous genitalia Hypoplasia of penis Bifid scrotum Patellar dislocation Short 1st metacarpal Bifid nasal tip Rhizomelic arm shortening Strabismus Alopecia Tombstone-shaped proximal phalanges Joint laxity Abnormality of the pinna Genu valgum Aciduria Waddling gait Thoracic scoliosis Thoracolumbar scoliosis Cavum septum pellucidum Abnormality of dental eruption D-2-hydroxyglutaric aciduria Hypospadias Widened distal phalanges Spasticity Coronal cleft vertebrae Delayed speech and language development Myopia Hyperactivity Muscular hypotonia of the trunk Attention deficit hyperactivity disorder Delayed gross motor development Metaphyseal widening Glossoptosis Short femur Abnormality of the mandible Cervical segmentation defect Submucous cleft soft palate Mild neurosensory hearing impairment Talipes equinovarus Sandal gap Prominent occiput Radial bowing Knee dislocation Cervical kyphosis Hitchhiker thumb Horizontal sacrum Failure to thrive Flexion contracture Synostosis of joints Premature birth Abnormality of the clavicle Megalencephaly Cloverleaf skull Metaphyseal chondrodysplasia Fibular bowing Aplasia/Hypoplasia of the mandible Enlarged cerebellum Telecanthus Pulmonary hypoplasia Coarctation of aorta Thoracic hypoplasia Hydrops fetalis Increased bone mineral density Short ribs Accelerated skeletal maturation Short thorax Natal tooth Protruding tongue Generalized osteosclerosis Lethal skeletal dysplasia Aplastic clavicle Femoral bowing Redundant skin High palate Hearing impairment Feeding difficulties Recurrent infections High forehead Osteopenia Congenital cataract Congenital contracture Epiphyseal stippling Limb joint contracture Calcific stippling Stippled calcification proximal humeral epiphyses Hypoplasia of the corpus callosum Sleep apnea Congestive heart failure Gastroesophageal reflux Severe global developmental delay Brain atrophy Otitis media Generalized-onset seizure High myopia Epidermal acanthosis Pulmonary arterial hypertension Exotropia Posterior rib cupping



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