Depressed nasal bridge, and Pulmonary hypoplasia

Diseases related with Depressed nasal bridge and Pulmonary hypoplasia

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


Top matches:

High match HYPOTHALAMIC HAMARTOMAS


Related symptoms:

  • Neoplasm
  • Micrognathia
  • Cleft palate
  • Depressed nasal bridge
  • Macrocephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOTHALAMIC HAMARTOMAS

High match SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY; SRTD8


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

High match MICROPHTHALMIA, SYNDROMIC 12; MCOPS12


MICROPHTHALMIA, SYNDROMIC 12; MCOPS12 Is also known as microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MICROPHTHALMIA, SYNDROMIC 12; MCOPS12

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Other less relevant matches:

High match LETHAL CONGENITAL CONTRACTURE SYNDROME 9; LCCS9


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LETHAL CONGENITAL CONTRACTURE SYNDROME 9; LCCS9

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 SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY; SRTD14


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

High match CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL AND URINARY ANOMALIES


Cutis laxa is a collection of disorders that are typified by loose and/or wrinkled skin that imparts a prematurely aged appearance. Face, hands, feet, joints, and torso may be differentially affected. The skin lacks elastic recoil, in marked contrast to the hyperelasticity apparent in classic Ehlers-Danlos syndrome (see {130000}). These properties are nearly always attributable to loss, fragmentation, or severe disorganization of dermal elastic fibers (summary by Davidson and Giro, 2002).Patients with autosomal recessive cutis laxa type IC exhibit generalized cutis laxa in association with impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development (summary by Callewaert et al., 2013).For general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL AND URINARY ANOMALIES Is also known as urban-rifkin-davis syndrome|arcl1c|autosomal recessive cutis laxa type 1c|urds|cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Depressed nasal bridge


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL AND URINARY ANOMALIES

High match PLATYSPONDYLIC DYSPLASIA, TORRANCE TYPE


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

High match PENILE AGENESIS


Penile agenesis is a rare urogenital tract malformation characterized by complete congenital absence of the phallus. It is usually accompanied by a well-developed scrotum and presence of a skin tag at the anal verge (with or without a urethral meatal opening within it). Often, other genitourinary (e.g. cryptorchidism, renal agenesis and dysplasia, urinary reflux, prostate agenesis) as well as non-genitourinary abnormalities (including skeletal and neural disorders, anal stenosis, imperforate anus, cardiac defects) are associated.

PENILE AGENESIS Is also known as penis agenesis|aphallia|familial incomplete male pseudohermaphroditism, type 2|male pseudohermaphroditism due to 5-alpha-reductase deficiency

Related symptoms:

  • Cryptorchidism
  • Depressed nasal bridge
  • Ventricular septal defect
  • Atrial septal defect
  • Short nose


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PENILE AGENESIS

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

Top 5 symptoms//phenotypes associated to Depressed nasal bridge and Pulmonary hypoplasia

Symptoms // Phenotype % cases
Micrognathia Common - Between 50% and 80% cases
Polyhydramnios Uncommon - Between 30% and 50% cases
Cleft palate Uncommon - Between 30% and 50% cases
Narrow chest Uncommon - Between 30% and 50% cases
Micromelia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Short ribs Low-set ears Skeletal dysplasia Malar flattening Ventricular septal defect Respiratory insufficiency Platyspondyly Respiratory failure Hernia Congenital diaphragmatic hernia Micropenis Short neck Generalized hypotonia Short nose Hydrocephalus Macrocephaly Hydrops fetalis

Rare Symptoms - Less than 30% cases


Upper limb undergrowth Flat acetabular roof Bilateral talipes equinovarus Protuberant abdomen Sparse hair Short thorax Retrognathia Flared metaphysis Wide nasal bridge Thoracic hypoplasia Hypertelorism Lethal skeletal dysplasia Patent foramen ovale Sandal gap Scoliosis Growth delay Atrial septal defect Metaphyseal cupping Talipes equinovarus Anteverted nares Abnormality of metabolism/homeostasis Midface retrusion Talipes Neonatal short-limb short stature Bowing of the long bones Abnormal facial shape Cryptorchidism Preaxial polydactyly Long philtrum Polydactyly Cleft lip Oral cleft Postaxial polydactyly Ambiguous genitalia Short long bone Aplastic clavicle Hydronephrosis Thoracic dysplasia Edema Severe platyspondyly Premature skin wrinkling Hypoplastic ischia Pulmonary artery stenosis Disc-like vertebral bodies Hypoplastic pubic bone Tracheomalacia Abnormality of the abdominal wall Abnormality of the carpal bones Laryngomalacia Pyloric stenosis Prematurely aged appearance Hypoplasia of the capital femoral epiphysis Emphysema Bronchomalacia Peripheral pulmonary artery stenosis Coarse facial features Abdominal distention Disproportionate short-limb short stature Genu varum Short foot Short distal phalanx of finger Short palm Thin ribs Bladder diverticulum Hypoplastic scapulae Hypoplastic pelvis Hypoplastic ilia Prominent forehead Decreased cranial base ossification Rectal prolapse Periorbital edema Neoplasm Male pseudohermaphroditism Severe limb shortening Abnormality of epiphysis morphology Cloacal abnormality Absent penis Urethral atresia, male Urethral fistula Cataract Proptosis Telecanthus Premature birth Short metacarpal Limb undergrowth Coarctation of aorta Rhizomelia Rectal fistula Increased bone mineral density Accelerated skeletal maturation Mesomelia Natal tooth Protruding tongue Generalized osteosclerosis Synostosis of joints Advanced ossification of carpal bones Broad clavicles Squared iliac bones Distal shortening of limbs Advanced tarsal ossification Incomplete male pseudohermaphroditism Fetal pyelectasis Hypospadias Decreased fertility Posteriorly rotated ears Anal atresia Hypoplasia of penis Oligohydramnios Gynecomastia Abnormality of the hair Scrotal hypoplasia Abnormality of the voice Bifid scrotum Tracheoesophageal fistula Hydroureter Microretrognathia Unilateral renal hypoplasia Maternal diabetes Abnormality of the endocrine system Cystic renal dysplasia Perineal hypospadias Ambiguous genitalia, male Urogenital sinus anomaly Bilateral renal agenesis Atrophy of the spinal cord Bilateral renal hypoplasia Anorectal anomaly Abnormality of the bladder Bilateral lung agenesis Cutis laxa Dumbbell-shaped femur Large fontanelles Tetraparesis Delayed speech and language development Dystonia Microphthalmia Brachycephaly Muscular hypotonia of the trunk Severe global developmental delay Wide nose Broad nasal tip Chorea Short palpebral fissure Spasticity Short chin Spastic tetraparesis Anophthalmia Bicornuate uterus Hypoplastic left atrium Flexion contracture Hypertension Intrauterine growth retardation Myopathy Kyphoscoliosis Feeding difficulties Global developmental delay Camptodactyly Anterior hypopituitarism Abnormality of cardiovascular system morphology Abnormal heart morphology Hip dislocation Postaxial hand polydactyly Renal dysplasia Occipital encephalocele Hamartoma Median cleft lip Microglossia Glioma Intellectual disability Hypothalamic hamartoma Short stature Failure to thrive Hepatomegaly Brachydactyly Syndactyly Femoral bowing Lateral clavicle hook Pancreatic fibrosis Acetabular spurs Thin upper lip vermilion Arthrogryposis multiplex congenita Recurrent urinary tract infections Anencephaly Horizontal sacrum Abnormality of the skeletal system Hyporeflexia Agenesis of corpus callosum Abnormality of the pinna Coloboma Polymicrogyria Cerebellar vermis hypoplasia Molar tooth sign on MRI Retinal coloboma Tracheobronchomalacia Short upper lip Respiratory distress Dilatation Inguinal hernia Gastroesophageal reflux Macrotia Umbilical hernia Joint laxity Convex nasal ridge Sloping forehead Short sacroiliac notch Cervical kyphosis Triangular face Thoracic kyphoscoliosis Decreased fetal movement Joint contracture of the hand Adducted thumb Pterygium Congenital contracture Ankylosis Cardiorespiratory arrest Preeclampsia Ulnar deviation of the hand Abnormality of the diaphragm Aplasia/hypoplasia of the extremities Short umbilical cord Kyphosis Severe short stature Hyperlordosis Lumbar hyperlordosis Short middle phalanx of finger Hypoplasia of the ulna Coronal cleft vertebrae Laryngeal stenosis Mesomelic short stature Laryngeal calcification



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