Depressed nasal bridge, and Polyhydramnios

Diseases related with Depressed nasal bridge and Polyhydramnios

In the following list you will find some of the most common rare diseases related to Depressed nasal bridge and Polyhydramnios 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, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY; SRTD8 Is also known as srps6|short rib-polydactyly syndrome, type vi

Related symptoms:

  • Short stature
  • Failure to thrive
  • Depressed nasal bridge
  • Hepatomegaly
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY; SRTD8

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Abnormal facial shape


SOURCES: MESH OMIM MENDELIAN

More info about NOONAN SYNDROME 4; NS4

Related symptoms:

  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about LETHAL CONGENITAL CONTRACTURE SYNDROME 9; LCCS9

Other less relevant matches:

Chitayat syndrome is a rare condition characterized by respiratory distress presenting at birth, bilateral accessory phalanx resulting in shortened index fingers with ulnar deviation, hallux valgus, and characteristic facial features including prominent eyes, hypertelorism, depressed nasal bridge, full lips, and upturned nose (summary by Balasubramanian et al., 2017).

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Abnormal facial shape
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about CHITAYAT SYNDROME; CHYTS

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:

  • Generalized hypotonia
  • Cleft palate
  • Low-set ears
  • Depressed nasal bridge
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY; SRTD14

Thanatophoric dysplasia type 1 (TD1) is a form of TD (see this term) characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly.

THANATOPHORIC DYSPLASIA TYPE 1 Is also known as thanatophoric dwarfism type 1|td1

Related symptoms:

  • Seizures
  • Hearing impairment
  • Muscular hypotonia
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: ORPHANET MENDELIAN

More info about THANATOPHORIC DYSPLASIA TYPE 1

Platyspondylic lethal skeletal dysplasia (PLSD), Torrance type (PLSD-T) is a skeletal dysplasia characterised by severe limb shortening (short and broad long bones), platyspondyly with wafer-like vertebral bodies, short ribs with anterior cupping, severe hypoplasia of the lower ilia and radial bowing. Histological findings include slightly enlarged chondrocytes and hypercellularity. The prevalence is unknown. The disorder is transmitted as an autosomal dominant trait and is caused by mutations in the C-propeptide domain of the COL2A1 gene. Although PLSD-T is generally lethal, survival to adulthood has been reported in two families.

PLATYSPONDYLIC DYSPLASIA, TORRANCE TYPE Is also known as platyspondylic dysplasia, torrance-luton type|thanatophoric dysplasia, torrance variant|lethal short-limbed platyspondylic dwarfism, torrance type|platyspondylic lethal skeletal dysplasia, torrance type|plsd-t

Related symptoms:

  • Cleft palate
  • Low-set ears
  • Depressed nasal bridge
  • Macrocephaly
  • Short neck


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PLATYSPONDYLIC DYSPLASIA, TORRANCE TYPE

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

Heart and brain malformation syndrome is a severe autosomal recessive multiple congenital anomaly syndrome characterized by profoundly delayed psychomotor development, dysmorphic facial features, microphthalmia, cardiac malformations, mainly septal defects, and brain malformations, including Dandy-Walker malformation (summary by Shaheen et al., 2016).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about HEART AND BRAIN MALFORMATION SYNDROME; HBMS

Thanatophoric dysplasia, type 2 (TD2) is a form of TD (see this term) characterized by micromelia, straight long-bones, macrocephaly, brachydactyly, shortened ribs and a clover-leaf skull (kleeblattschaedel).

THANATOPHORIC DYSPLASIA TYPE 2 Is also known as thanatophoric dwarfism type 2|cloverleaf skull-micromelic bone dysplasia syndrome|thanatophoric dysplasia with kleeblattschaedel|thanatophoric dysplasia with straight femurs and cloverleaf skull|td2|cloverleaf skull with thanatophoric dwarfism|thanatophor

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Muscular hypotonia
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about THANATOPHORIC DYSPLASIA TYPE 2

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

Symptoms // Phenotype % cases
Narrow chest Common - Between 50% and 80% cases
Micromelia Uncommon - Between 30% and 50% cases
Macrocephaly Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases
Short ribs Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Pulmonary hypoplasia Abnormal facial shape Skeletal dysplasia Atrial septal defect Anteverted nares Platyspondyly Proptosis Respiratory insufficiency Brachydactyly Hypertelorism Short thorax Hydrocephalus Hydrops fetalis Flared metaphysis Seizures Short neck Generalized hypotonia Short stature Ventricular septal defect Cleft lip Hypoplastic ilia Bowing of the long bones

Rare Symptoms - Less than 30% cases

Metaphyseal cupping Protuberant abdomen Abnormality of the pinna Lethal skeletal dysplasia Edema Flat face Cleft palate Short femur Cloverleaf skull Long philtrum Lethal short-limbed short stature Short sacroiliac notch Decreased fetal movement Neonatal short-limb short stature Cerebellar vermis hypoplasia Abnormality of the kidney Wide anterior fontanel Prominent forehead Abnormality of the metaphysis Malar flattening Camptodactyly Kyphosis Ventriculomegaly Frontal bossing Aplasia/Hypoplasia of the lungs Muscular hypotonia Hearing impairment Acanthosis nigricans Aplastic clavicle Disproportionate short-limb short stature Redundant skin Patent ductus arteriosus Increased nuchal translucency Scoliosis Short long bone Posteriorly rotated ears Thick lower lip vermilion Growth delay Thoracic dysplasia Femoral bowing Preaxial polydactyly Postaxial polydactyly Oral cleft Polydactyly Syndactyly Micrognathia Genu varum Thin ribs Delayed CNS myelination Widow's peak Prominent metopic ridge Abnormal cardiac septum morphology Hypoplastic scapulae Hyperactive deep tendon reflexes Poor eye contact Prominent occiput Flat acetabular roof Abdominal distention Hypoplastic pelvis Global brain atrophy Aplasia/Hypoplasia of the corpus callosum Interrupted aortic arch Joint hyperflexibility Short foot Short palm Small abnormally formed scapulae Small foramen magnum Severe short-limb dwarfism Small face Coarse facial features Occipital encephalocele Abnormality of neuronal migration Metaphyseal irregularity Hand clenching Holoprosencephaly Encephalocele Limitation of joint mobility Narrow forehead Severe short stature Cognitive impairment Short distal phalanx of finger Interphalangeal joint contracture of finger Hypoplasia of the capital femoral epiphysis Dandy-Walker malformation Microcephaly Synostosis of joints Sepsis Advanced ossification of carpal bones Broad clavicles Everted lower lip vermilion Distal shortening of limbs Advanced tarsal ossification Laryngeal calcification Global developmental delay High palate Generalized osteosclerosis Visual impairment Hyperreflexia Wide nasal bridge High, narrow palate Hypoplasia of the corpus callosum Microphthalmia Cerebral atrophy Camptodactyly of finger Gastroesophageal reflux Brain atrophy Protruding tongue Muscular hypotonia of the trunk Short nose Hypoplastic ischia Abnormality of the abdominal wall Abnormality of the carpal bones Hypoplastic pubic bone Severe platyspondyly Disc-like vertebral bodies Decreased cranial base ossification Severe limb shortening Cataract Telecanthus Natal tooth Premature birth Short metacarpal Limb undergrowth Coarctation of aorta Abnormality of epiphysis morphology Rhizomelia Increased bone mineral density Accelerated skeletal maturation Mesomelia Squared iliac bones Anencephaly Abnormality of the sacroiliac joint Thin upper lip vermilion High anterior hairline Pectus excavatum of inferior sternum Flexion contracture Hypertension Intrauterine growth retardation Talipes equinovarus Myopathy Respiratory failure Kyphoscoliosis Arthrogryposis multiplex congenita Curly hair Talipes Triangular face Joint contracture of the hand Adducted thumb Pterygium Congenital contracture Bilateral talipes equinovarus Ankylosis Cardiorespiratory arrest Blue irides Prolonged bleeding time Ulnar deviation of the hand Downslanted palpebral fissures Hepatomegaly Ambiguous genitalia Lateral clavicle hook Pancreatic fibrosis Acetabular spurs Intellectual disability Cryptorchidism Ptosis Epicanthus Hypertrophic cardiomyopathy Abnormality of coagulation Low-set, posteriorly rotated ears Pulmonic stenosis Dental malocclusion Webbed neck Wide intermamillary distance Sparse and thin eyebrow Sparse eyebrow Cubitus valgus Bilateral cryptorchidism Preeclampsia Thoracic kyphoscoliosis Excessive wrinkled skin Congenital diaphragmatic hernia Bronchospasm Intercostal retractions Abnormality of the skeletal system Hernia Hyporeflexia Agenesis of corpus callosum Micropenis Coloboma Polymicrogyria Thoracic hypoplasia Bronchomalacia Molar tooth sign on MRI Failure to thrive Upper limb undergrowth Retinal coloboma Short upper lip Joint stiffness Intellectual disability, profound Split hand Heterotopia Parietal bossing Short columella Abnormality of the diaphragm Finger syndactyly Short umbilical cord Respiratory distress Midface retrusion Pectus excavatum Clinodactyly Recurrent respiratory infections Dyspnea Retrognathia Respiratory tract infection Abnormality of the foot Tracheomalacia Thick vermilion border Highly arched eyebrow Broad thumb Tachypnea Abnormality of the hand Short middle phalanx of finger Hallux valgus Interstitial pulmonary abnormality Exertional dyspnea Abnormality of digit Wide-cupped costochondral junctions


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