Depressed nasal bridge, and Premature birth

Diseases related with Depressed nasal bridge and Premature birth

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


Top matches:

High match ACHONDROGENESIS, TYPE IA; ACG1A


The term achondrogenesis has been used to characterize the most severe forms of chondrodysplasia in humans, invariably lethal before or shortly after birth. Achondrogenesis type I is a severe chondrodystrophy characterized radiographically by deficient ossification in the lumbar vertebrae and absent ossification in the sacral, pubic and ischial bones and clinically by stillbirth or early death (Maroteaux and Lamy, 1968; Langer et al., 1969). In addition to severe micromelia, there is a disproportionately large cranium due to marked edema of soft tissues. Classification of AchondrogenesisAchondrogenesis was traditionally divided into 2 types: type I (Parenti-Fraccaro) and type II (Langer-Saldino). Borochowitz et al. (1988) suggested that achondrogenesis type I of Parenti-Fraccaro should be classified into 2 distinct disorders: type IA, corresponding to the cases originally published by Houston et al. (1972) and Harris et al. (1972), and type IB (OMIM ), corresponding to the case originally published by Fraccaro (1952). Analysis of the case reported by Parenti (1936) by Borochowitz et al. (1988) suggested the diagnosis of achondrogenesis type II, i.e., the Langer-Saldino type (OMIM ). Type IA would be classified as lethal achondrogenesis, Houston-Harris type; type IB, lethal achondrogenesis, Fraccaro type; and type II, lethal achondrogenesis-hypochondrogenesis, Langer-Saldino type. Superti-Furga (1996) suggested that hypochondrogenesis should be considered separately from achondrogenesis type II because the phenotype can be much milder. Genetic Heterogeneity of AchondrogenesisAchondrogenesis type IB (ACG1B ) is caused by mutation in the DTDST gene (OMIM ), and achondrogenesis type II (ACG2 ) is caused by mutation in the COL2A1 gene (OMIM ).

ACHONDROGENESIS, TYPE IA; ACG1A Is also known as achondrogenesis, houston-harris type

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ACHONDROGENESIS, TYPE IA; ACG1A

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 CHAR SYNDROME


Char syndrome is characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies.

CHAR SYNDROME Is also known as patent ductus arteriosus with facial dysmorphism and abnormal fifth digits

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CHAR SYNDROME

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Other less relevant matches:

High match SYNDROMIC DIARRHEA


Syndromic diarrhea (SD), or tricho-hepato-enteric syndrome (THE), is a severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction.

SYNDROMIC DIARRHEA Is also known as trichohepatoenteric syndrome|tricho-hepato-enteric syndrome|diarrhea, fatal infantile, with trichorrhexis nodosa|sd/the|the syndrome|phenotypic diarrhea|diarrhea, syndromic|syndromic diarrhea/tricho-hepato-enteric syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYNDROMIC DIARRHEA

High match EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE


Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility. The dermatosparaxis type (formerly called EDS type VIIC) is marked by extremely fragile tissues, hyperextensible skin and easy bruising. Facial skin contains numerous folds, as in the cutis laxa syndrome. Umbilical or inguinal hernias have also been described. Dermatosparaxis is extremely rare and few cases only have been reported. The disease is transmitted as an autosomal recessive trait. It is due to N-terminal procollagen I peptidase deficiency causing abnormal maturation of the alpha1 (I) and alpha2 (I) collagen I pro-chains, in which the aminoterminal propeptide is incorrectly cleaved. The causative gene, ADAMTS2, has been localised to 5q23. The homozygous mutation Q225X was present in 80% of cases subjected to molecular analysis. There is no specific treatment available for this disease, but symptomatic management should be offered in a specialised centre.

EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE Is also known as ehlers-danlos syndrome, type vii, autosomal recessive|eds7c|dermatosparaxis|ehlers-danlos syndrome type 7c|eds viic

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Micrognathia
  • Abnormal facial shape


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE

High match FETAL AKINESIA DEFORMATION SEQUENCE


The fetal akinesia/hypokinesia sequence (or Pena-Shokeir syndrome type I) is characterized by multiple joint contractures, facial anomalies and pulmonary hypoplasia. Whatever the cause, the common feature of this sequence is decreased foetal activity.

FETAL AKINESIA DEFORMATION SEQUENCE Is also known as arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome|arthrogryposis multiplex congenita with pulmonary hypoplasia|fads|pena-shokeir syndrome type 1|fetal akinesia sequence|pena-shokeir syndrome, type i

Related symptoms:

  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about FETAL AKINESIA DEFORMATION SEQUENCE

High match ATELOSTEOGENESIS, TYPE I; AO1


Atelosteogenesis is the name given by Maroteaux et al. (1982) to a lethal chondrodysplasia characterized by distal hypoplasia of the humeri and femurs, hypoplasia of the midthoracic spine, occasionally complete lack of ossification of single hand bones, and the finding in cartilage of multiple degenerated chondrocytes encapsulated in fibrous tissue. Rimoin et al. (1980) termed it 'giant cell chondrodysplasia.' Patients with AO1 exhibit severe short-limbed dwarfism and dislocated elbows, hips, and knees (Jeon et al., 2014). Genetic Heterogeneity of AtelosteogenesisAtelosteogenesis type II (AO2 ) is caused by mutation in the SLC26A2 gene (OMIM ) on chromosome 5q32. AO3 (OMIM ) is also caused by mutation in the FLNB gene (OMIM ).

ATELOSTEOGENESIS, TYPE I; AO1 Is also known as giant cell chondrodysplasia|spondylohumerofemoral hypoplasia|aoi

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: MESH OMIM MENDELIAN

More info about ATELOSTEOGENESIS, TYPE I; AO1

High match FETAL GAUCHER DISEASE


Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term).

FETAL GAUCHER DISEASE Is also known as perinatal lethal gaucher disease|gaucher disease, collodion type

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FETAL GAUCHER DISEASE

High match SCHIMKE IMMUNO-OSSEOUS DYSPLASIA


Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.

SCHIMKE IMMUNO-OSSEOUS DYSPLASIA Is also known as immunoosseous dysplasia, schimke type|schimke syndrome|spondyloepiphyseal dysplasia-nephrotic syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SCHIMKE IMMUNO-OSSEOUS DYSPLASIA

High match CORNELIA DE LANGE SYNDROME


Cornelia de Lange syndrome (CdLS) is a multisystem disorder with variable expression marked by a characteristic facial dysmorphism, variable degrees of intellectual deficit, severe growth retardation beginning before birth (2nd trimester), abnormal hands and feet (oligodactyly, or sometimes an even more severe amputation, and constant brachymetacarpia of the first metacarpus), and various other malformations (heart, kidney etc.).

CORNELIA DE LANGE SYNDROME Is also known as brachmann-de lange syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about CORNELIA DE LANGE SYNDROME

Top 5 symptoms//phenotypes associated to Depressed nasal bridge and Premature birth

Symptoms // Phenotype % cases
Micrognathia Common - Between 50% and 80% cases
Short nose Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Polyhydramnios Common - Between 50% and 80% cases
Proptosis Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases


Long philtrum

Common Symptoms - More than 50% cases


Edema

Uncommon Symptoms - Between 30% and 50% cases


Anteverted nares Short neck Growth delay Intrauterine growth retardation Hypertelorism Short stature Intellectual disability Downslanted palpebral fissures Myopia Cleft palate Scoliosis Limb undergrowth Seizures Micromelia Talipes equinovarus Thrombocytopenia Lethal skeletal dysplasia Strabismus High palate Anemia Flexion contracture Cryptorchidism Malar flattening Global developmental delay Frontal bossing Gastroesophageal reflux Vomiting Narrow mouth Hip dislocation Depressed nasal ridge Protuberant abdomen Macrocephaly Ptosis Narrow chest Failure to thrive Hydrops fetalis Coarctation of aorta Everted lower lip vermilion Pulmonary hypoplasia Abnormality of cardiovascular system morphology Hernia Thoracic hypoplasia Ventricular septal defect Microcephaly Severe short stature Wide nasal bridge Muscular hypotonia

Rare Symptoms - Less than 30% cases


Short foot Overlapping fingers Osteopenia Motor delay Hyperkeratosis Coarse hair Generalized hypotonia Hypodontia Sleep disturbance Highly arched eyebrow Thick vermilion border Thick eyebrow Toe syndactyly Cognitive impairment Intracranial hemorrhage Hepatomegaly Sepsis Villous atrophy Arthrogryposis multiplex congenita High, narrow palate Decreased fetal movement Kyphosis Respiratory insufficiency Congenital contracture Akinesia Skeletal muscle atrophy Multiple joint contractures Fine hair Pancytopenia Hypokinesia Peripheral neuropathy Hepatic failure Abnormality of the skeletal system Delayed puberty Small for gestational age Microtia Abnormality of the liver Wide mouth Respiratory tract infection Abnormality of the pinna Elevated hepatic transaminase Jaundice Osteoporosis Fetal akinesia sequence Developmental regression Immunodeficiency Diarrhea Broad forehead Polydactyly Spasticity Talipes Rhizomelia Abnormality of epiphysis morphology Short metacarpal Platyspondyly Telecanthus Retrognathia Skeletal dysplasia Corneal opacity Cataract Hip dysplasia Microdontia Broad clavicles Anxiety Femoral hernia Disproportionate short-trunk short stature Lumbar hyperlordosis Joint dislocation Protruding tongue Thin ribs Cystic hygroma Short thorax Epiphyseal dysplasia Spondyloepiphyseal dysplasia Short ribs Renal insufficiency Hyperlordosis Elbow dislocation Macrotia Hypertonia Low-set, posteriorly rotated ears Camptodactyly Clinodactyly of the 5th finger Hyperreflexia Joint stiffness Respiratory distress Congestive heart failure Inguinal hernia Respiratory failure Umbilical hernia Scarring Hypospadias Recurrent infections Ventriculomegaly Autism Pneumonia Brachycephaly Nonimmune hydrops fetalis Cardiomyopathy Sudden episodic apnea Severe hydrops fetalis Hepatic necrosis Abnormality of the dentition Cerebellar atrophy Extramedullary hematopoiesis Cardiorespiratory arrest Astrocytosis Distal arthrogryposis Myocardial necrosis Pneumothorax Everted upper lip vermilion Fever Generalized hyperkeratosis Hypertension Mild fetal ventriculomegaly Enlarged fetal cisterna magna Abnormality of the microglia Abnormality of the spinal cord Hydropic placenta Desquamation of skin soon after birth Congenital nonbullous ichthyosiform erythroderma Low voltage EEG Abnormality of the larynx Abnormality of the small intestine Abnormal pupillary function Decreased beta-glucocerebrosidase protein and activity Abnormality of the spleen Clubbing Congenital ichthyosiform erythroderma Intestinal pseudo-obstruction Dysphagia Distal tapering femur Multinucleated giant chondrocytes in epiphyseal cartilage Club-shaped proximal femur Thoracic platyspondyly Multiple joint dislocation Laryngeal stenosis Aplasia/Hypoplasia of the ulna Long clavicles Fibular aplasia Coronal cleft vertebrae Hepatosplenomegaly Fused cervical vertebrae 11 pairs of ribs Short femur Radial bowing Bell-shaped thorax Loss of speech Short humerus Atonic seizures Progressive spasticity Tibial bowing Flat occiput Splenomegaly Neonatal hypotonia Petechiae Open mouth Opisthotonus Abnormality of coagulation Neonatal respiratory distress Apathy Pleural effusion Ectropion Poor suck Purpura Knee flexion contracture Thickened skin Abnormality of the face Progressive neurologic deterioration Apnea Cardiomegaly Oligohydramnios Cerebral calcification Underdeveloped nasal alae Abnormal bleeding Triangular face Ascites Metabolic acidosis Ichthyosis Abnormality of eye movement Headache Interphalangeal joint contracture of finger Emphysema Dementia Glaucoma Intestinal malrotation Vesicoureteral reflux Microcornea Delayed eruption of teeth Small hand Downturned corners of mouth Thin vermilion border Synophrys Neurological speech impairment Attention deficit hyperactivity disorder Feeding difficulties in infancy Conductive hearing impairment Cerebral cortical atrophy Congenital diaphragmatic hernia Delayed skeletal maturation Pectus excavatum Intellectual disability, severe Atrial septal defect Sensorineural hearing impairment Nystagmus Lateral displacement of the femoral head Nephrosclerosis Anterior pituitary dysgenesis Premature arteriosclerosis Moyamoya phenomenon Abnormal immunoglobulin level Abnormal T cell morphology Hypoplasia of penis Low posterior hairline Increased thyroid-stimulating hormone level Truncal obesity Prenatal movement abnormality Phthisis bulbi Curly eyelashes Increased nuchal translucency Volvulus Abnormality of the uterus Short 1st metacarpal Abnormality of the ulna Hypoplastic labia majora Severe postnatal growth retardation Blepharitis Oligodactyly Hypoplastic nipples Cutis marmorata Primary amenorrhea Aplasia/Hypoplasia of the cerebellum Obsessive-compulsive behavior Proximal placement of thumb Radioulnar synostosis Pyloric stenosis Atresia of the external auditory canal Widely spaced teeth Multicystic kidney dysplasia Generalized hirsutism Bilateral single transverse palmar creases Low anterior hairline Long eyelashes Choanal atresia Encephalomalacia Shallow acetabular fossae Hypothyroidism Brain atrophy Atherosclerosis Opacification of the corneal stroma Bone marrow hypocellularity Lymphopenia Heterotopia Abnormal form of the vertebral bodies Abnormal lung morphology Intellectual disability, profound Nephrotic syndrome Decreased testicular size Waddling gait Lymphoma Migraine Gliosis Azoospermia Abnormal cerebellum morphology Neutropenia Nephropathy Bulbous nose Abnormality of skin pigmentation Stage 5 chronic kidney disease Astigmatism Malabsorption Stroke Autoimmunity Abnormality of the kidney Proteinuria Thin upper lip vermilion Hyperlipidemia Reduced bone mineral density Steroid-resistant nephrotic syndrome Thoracic kyphosis Multiple lentigines Mucopolysacchariduria Hypoplasia of the capital femoral epiphysis Arteriosclerosis Right ventricular cardiomyopathy Cellular immunodeficiency Dentinogenesis imperfecta Subvalvular aortic stenosis Precocious atherosclerosis Cerebral ischemia Lymphoproliferative disorder B-cell lymphoma Ovoid vertebral bodies Transient ischemic attack Chronic kidney disease Abnormality of the vasculature Glomerulopathy Multiple cafe-au-lait spots Steatorrhea Hypermelanotic macule Combined immunodeficiency High pitched voice Focal segmental glomerulosclerosis Melanocytic nevus Nephritis Glomerulonephritis Glomerulosclerosis Encephalitis Oral-pharyngeal dysphagia Generalized amyotrophy Short metatarsal Cirrhosis Recurrent upper respiratory tract infections Leukopenia Aortic regurgitation Abnormality of the hair Hepatic fibrosis Chronic diarrhea Tetralogy of Fallot Aciduria Bifid uvula Wide nose Dry skin Brittle hair Pulmonic stenosis Sparse hair Prominent forehead Abnormal heart morphology Distal/middle symphalangism of 5th finger Mesoaxial foot polydactyly Symphalangism of the 5th finger Muscular ventricular septal defect Parasomnia No permanent dentition Mesoaxial hand polydactyly Hypoalbuminemia Abnormality of the immune system Persistence of primary teeth Secretory diarrhea Joint laxity Epicanthus Abnormalities of placenta or umbilical cord Large placenta Abnormality of iron homeostasis Galactosuria Humoral immunodeficiency Hypermethioninemia Renal cortical microcysts Increased serum iron Hypergalactosemia Intractable diarrhea Curly hair Intermittent diarrhea Increased mean platelet volume Trichorrhexis nodosa Peripheral pulmonary artery stenosis Abnormal thrombocyte morphology Abnormality of the pancreas Large forehead Woolly hair Thrombocytosis Underdeveloped supraorbital ridges Iron deficiency anemia Triangular mouth Short middle phalanx of the 5th finger Joint hypermobility Decreased skull ossification Increased bone mineral density Bowing of the long bones Abnormality of the femoral metaphysis Abnormal hand bone ossification Abnormal foot bone ossification Unossified vertebral bodies Beaded ribs Abnormal enchondral ossification Hypoplastic ischia Multiple epiphyseal dysplasia Hypoplastic scapulae Flared metaphysis Barrel-shaped chest Aplasia/Hypoplasia of the lungs Thickened nuchal skin fold Upper limb undergrowth Short clavicles Disproportionate short stature Growth abnormality Hypoplasia of the radius Short chin Abnormality of the ribs Flat face Accelerated skeletal maturation Mesomelia Prominent occiput Syndactyly Supernumerary nipple Hand polydactyly Bicuspid aortic valve Finger clinodactyly Broad nasal tip Short philtrum Craniosynostosis Protruding ear High forehead Patent ductus arteriosus Clinodactyly Intellectual disability, mild Natal tooth Hearing impairment Laryngeal calcification Advanced tarsal ossification Distal shortening of limbs Squared iliac bones Advanced ossification of carpal bones Synostosis of joints Neonatal short-limb short stature Aplastic clavicle Metaphyseal cupping Generalized osteosclerosis Joint hyperflexibility Bruising susceptibility Hyperkinesis Thyroid hypoplasia Brachydactyly Delayed speech and language development Feeding difficulties Pain Intestinal hypoplasia Absent palmar crease Small placenta Short umbilical cord Elbow ankylosis Ulnar deviation of the hand or of fingers of the hand Fractures of the long bones Midface retrusion Hydranencephaly Cavum septum pellucidum Ulnar deviation of the hand Excessive daytime somnolence Depressed nasal tip Adrenal hypoplasia Abnormality of abdomen morphology Anencephaly Fatigable weakness Absent septum pellucidum Slender long bone Gait disturbance Depressivity Pterygium Otitis media Disproportionate short-limb short stature Drooling Abnormality of the outer ear Absence seizures Recurrent pneumonia Muscle stiffness Meningitis Aspiration Sinusitis Recurrent urinary tract infections Encephalocele Generalized myoclonic seizures Constipation Abdominal distention Inability to walk Nausea Poor speech Generalized tonic-clonic seizures Autistic behavior Deeply set eye Mandibular prognathia Weight loss Abdominal pain Recurrent respiratory infections Rocker bottom foot Abnormality of pelvic girdle bone morphology Short palm Mutism Fragile skin Prolonged bleeding time Delayed cranial suture closure Aphasia Dysphasia Open bite Epiphora Rickets Redundant skin Hyperextensible skin Cutis laxa Osteomalacia Coxa vara Coxa valga Short toe Wide anterior fontanel Gingival overgrowth Short phalanx of finger Large fontanelles Thin skin Hypertrichosis Blue sclerae Hirsutism Abnormal joint morphology Palpebral edema Short palpebral fissure Gingival hyperkeratosis Dandy-Walker malformation Camptodactyly of finger Blepharophimosis Posteriorly rotated ears Cerebellar hypoplasia Hydrocephalus Abnormality of primary molar morphology Recurrent mandibular subluxations Frontal open bite Abnormality of subcutaneous fat tissue Spontaneous neonatal pneumothorax Enlarged naris Gingival bleeding Blepharochalasis Soft, doughy skin Premature rupture of membranes Excessive wrinkled skin Avascular necrosis of the capital femoral epiphysis Delayed closure of the anterior fontanelle Generalized edema Echolalia Esophagitis Hiatus hernia Soft skin Abnormally low-pitched voice



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