Depressed nasal bridge, and Severe short stature

Diseases related with Depressed nasal bridge and Severe short stature

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


Top matches:

High match MICROCEPHALIC PRIMORDIAL DWARFISM, ALAZAMI TYPE


Microcephalic primordial dwarfism, Alazami type is a rare, genetic developmental defect during embryogenesis syndrome characterized by severe intellectual disability, distinct dysmorphic facial features (i.e. triangular face with prominent forehead, narrow palpebral fissures, deep-set eyes, low-set ears, broad nose, malar hypoplasia, short philtrum, macrostomia, widely spaced teeth) and pre and postnatal proportionate short stature, ranging from primordial dwarfism (height below -3.5 SD) to a milder phenotype with less severe growth restriction (height below -2.5 SD). Other reported features include skeletal findings (e.g. scoliosis), microcephaly, involuntary hand movements, hypersensitivity to stimuli and behavioral problems, such as anxiety.

MICROCEPHALIC PRIMORDIAL DWARFISM, ALAZAMI TYPE Is also known as facial dysmorphism, intellectual disability, and primordial dwarfism|alazami syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MICROCEPHALIC PRIMORDIAL DWARFISM, ALAZAMI TYPE

High match SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES


Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Abnormal facial shape
  • Anemia


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES

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

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Other less relevant matches:

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

High match CONOTRUNCAL HEART MALFORMATIONS; CTHM


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Cleft palate
  • Depressed nasal bridge


SOURCES: OMIM MENDELIAN

More info about CONOTRUNCAL HEART MALFORMATIONS; CTHM

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 DWARFISM WITH TALL VERTEBRAE


Related symptoms:

  • Short stature
  • Depressed nasal bridge
  • Intrauterine growth retardation
  • Frontal bossing
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about DWARFISM WITH TALL VERTEBRAE

High match ATELOSTEOGENESIS TYPE II


Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene.

ATELOSTEOGENESIS TYPE II Is also known as ao2|de la chapelle dysplasia|atelosteogenesis type 2|neonatal osseous dysplasia i|neonatal osseous dysplasia type 1|aoii

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Cleft palate
  • Depressed nasal bridge
  • Talipes equinovarus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ATELOSTEOGENESIS TYPE II

High match FAMILIAL OSTEOCHONDRITIS DISSECANS


Familial osteochondritis dissecans is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence.

FAMILIAL OSTEOCHONDRITIS DISSECANS Is also known as osteochondritis dissecans and short stature|od|osteochondritis dissecans, short stature, and early-onset osteoarthritis

Related symptoms:

  • Short stature
  • Abnormal facial shape
  • Pain
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about FAMILIAL OSTEOCHONDRITIS DISSECANS

High match GALACTOSIALIDOSIS


Galactosialidosis is a lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form.

GALACTOSIALIDOSIS Is also known as ppca deficiency|lysosomal protective protein deficiency|goldberg syndrome|ngbe|cathepsin a deficiency|protective protein/cathepsin a deficiency|neuraminidase/beta-galactosidase expression|neuraminidase deficiency with beta-galactosidase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Ataxia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GALACTOSIALIDOSIS

Top 5 symptoms//phenotypes associated to Depressed nasal bridge and Severe short stature

Symptoms // Phenotype % cases
Short stature Uncommon - Between 30% and 50% cases
Skeletal dysplasia Uncommon - Between 30% and 50% cases
Frontal bossing Uncommon - Between 30% and 50% cases
Malar flattening Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia Scoliosis Global developmental delay Abnormal facial shape Hyperlordosis Cleft palate Short neck Midface retrusion Microcephaly Anteverted nares Talipes equinovarus Rhizomelia

Rare Symptoms - Less than 30% cases


Delayed skeletal maturation Disproportionate short-limb short stature Hypoplasia of the maxilla Sandal gap Flat acetabular roof Elbow dislocation Lumbar hyperlordosis Cervical kyphosis Horizontal sacrum Hypertelorism Talipes Hypospadias Short humerus Abnormality of metabolism/homeostasis Broad hallux Arthralgia Long philtrum Abnormality of the skeletal system Small for gestational age Osteopenia Intellectual disability, severe Wide nasal bridge Triangular face Growth delay Brachydactyly Recurrent infections High forehead Anemia Failure to thrive Waddling gait Pain Mild short stature Mesomelic short stature Aplasia/hypoplasia of the extremities Back pain Tracheobronchomalacia Short sacroiliac notch Dumbbell-shaped femur Gait disturbance Osteoarthritis Arthralgia of the hip Arthritis Joint stiffness Growth abnormality Coronal cleft vertebrae Accelerated skeletal maturation Short thumb Angiokeratoma Laryngeal stenosis Patent foramen ovale Upper limb undergrowth Increased vertebral height Coxa vara Scapular winging Spina bifida occulta Short thorax Slender long bone Cherry red spot of the macula Short 5th finger Hypoplastic pelvis Respiratory insufficiency Thoracic hypoplasia Kyphosis Respiratory failure Platyspondyly Narrow chest Micromelia Pulmonary hypoplasia Disproportionate short stature Short middle phalanx of finger Hypoplasia of the ulna Limited elbow extension Exostoses Proportionate short stature Dysostosis multiplex Coarse facial features Hepatosplenomegaly Foam cells Abnormality of the nervous system Mental deterioration Nonimmune hydrops fetalis Abnormality of the kidney Corneal opacity Inability to walk Abnormality of the vertebral column Visceromegaly Spondyloepiphyseal dysplasia Hemangioma Ascites Cardiomegaly Progressive neurologic deterioration Telangiectasia Hydrops fetalis Abnormal vertebral morphology Opacification of the corneal stroma Myoclonus Inguinal hernia Mucopolysacchariduria Abnormality of skeletal physiology Joint swelling Aortic regurgitation Abnormality of tibia morphology Abnormality of the knee Low back pain Osteochondritis Dissecans Decreased hip abduction Limited elbow flexion Quadriceps muscle atrophy Vacuolated lymphocytes Short ribs Seizures Hearing impairment Ataxia Edema Thrombocytopenia Hernia Conjunctival telangiectasia Hemophagocytosis Visual loss Pointed chin High palate Decreased testicular size Short palm Radial bowing Knee dislocation Hitchhiker thumb Cervical segmentation defect Widened distal phalanges Tombstone-shaped proximal phalanges Cryptorchidism Short nose Micropenis Ambiguous genitalia Prominent occiput Hypoplasia of penis Bifid scrotum Dislocated radial head Patellar dislocation Short 1st metacarpal Large forehead Bifid nasal tip Rhizomelic arm shortening Hypoplastic distal humeri Tibial bowing Anisopoikilocytosis Ventricular septal defect Broad-based gait Low-set ears Prominent forehead Deeply set eye Anxiety Wide mouth Short philtrum Poor speech Wide nose Thick vermilion border Decreased body weight Spotty hypopigmentation Widely spaced teeth Proptosis Telecanthus Sparse hair Short distal phalanx of finger Hypopigmentation of the skin Sparse and thin eyebrow Hypopigmented skin patches Profound global developmental delay Limited elbow flexion/extension Intellectual disability, mild Thick eyebrow Limb joint contracture Flexion contracture Feeding difficulties Epicanthus Congenital cataract Large fontanelles Abnormality of pelvic girdle bone morphology Congenital contracture Epiphyseal stippling Irregular vertebral endplates Calcific stippling Cataract Stippled calcification proximal humeral epiphyses Intrauterine growth retardation Pectus excavatum Clinodactyly of the 5th finger Mandibular prognathia Pes planus Hip dislocation Dolichocephaly Joint hypermobility Spasticity Muscular hypotonia Abnormality of cardiovascular system morphology Nasal speech Abnormal heart morphology Narrow mouth Abnormal cardiac septum morphology Postaxial polydactyly Bifid uvula Tetralogy of Fallot Coarctation of aorta Short palpebral fissure Hypocalcemia Transposition of the great arteries Generalized hypotonia Submucous cleft hard palate Hypoparathyroidism Double outlet right ventricle Truncus arteriosus Maternal diabetes Pulmonary artery atresia Complete atrioventricular canal defect Aortopulmonary window Anomalous origin of one pulmonary artery from ascending aorta Decreased beta-galactosidase activity



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