Depressed nasal bridge, and Splenomegaly

Diseases related with Depressed nasal bridge and Splenomegaly

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


Top matches:

High match SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE


Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE Is also known as semd, shohat type

Related symptoms:

  • Short stature
  • Scoliosis
  • Pain
  • Depressed nasal bridge
  • Hepatomegaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE

High match POIKILODERMA WITH NEUTROPENIA


Poikiloderma with neutropenia is a rare, genetic hereditary poikiloderma disorder characterized by early-onset poikiloderma (which typically begins in the extremities, progresses centripetally and eventually involves the trunk, face and ears) associated with chronic neutropenia, recurrent infections, pachyonychia and palmoplantar keratoderma. Growth and/or develomental delay and hepato- and/or splenomegaly are additional reported features.

POIKILODERMA WITH NEUTROPENIA Is also known as poikiloderma with neutropenia, clericuzio type|poikiloderma with neutropenia, clericuzio-type

Related symptoms:

  • Short stature
  • Hypertelorism
  • Abnormal facial shape
  • Cataract
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about POIKILODERMA WITH NEUTROPENIA

High match TRANSALDOLASE DEFICIENCY


Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.

TRANSALDOLASE DEFICIENCY Is also known as taldo deficiency|eyaid syndrome

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TRANSALDOLASE DEFICIENCY

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Other less relevant matches:

High match NEONATAL DIABETES-CONGENITAL HYPOTHYROIDISM-CONGENITAL GLAUCOMA-HEPATIC FIBROSIS-POLYCYSTIC KIDNEYS SYNDROME


A syndrome associating neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatopathy evolving to fibrosis and polykystic kidneys has been described in two sibs. Minor facial anomalies were also observed. Two other families presented incomplete forms of this syndrome. Mutations in GLIS3 encoding for the transcription factor GLI similar 3 seem to be responsible of the syndrome.

NEONATAL DIABETES-CONGENITAL HYPOTHYROIDISM-CONGENITAL GLAUCOMA-HEPATIC FIBROSIS-POLYCYSTIC KIDNEYS SYNDROME Is also known as ndh syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about NEONATAL DIABETES-CONGENITAL HYPOTHYROIDISM-CONGENITAL GLAUCOMA-HEPATIC FIBROSIS-POLYCYSTIC KIDNEYS SYNDROME

High match SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY; SRTD15


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}).SRTD15 is characterized by narrow thorax, oral and cardiovascular anomalies, short long bones, and postaxial polydactyly, in addition to other congenital anomalies. Considerable variability in features and in severity has been reported, with some affected individuals succumbing shortly after birth and others living to adulthood, even within the same family.For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (OMIM ).

Related symptoms:

  • Short stature
  • Scoliosis
  • Abnormal facial shape
  • Low-set ears
  • Depressed nasal bridge


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY; SRTD15

High match SCHEIE SYNDROME


Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.

SCHEIE SYNDROME Is also known as mps v, formerly|mucopolysaccharidosis type 1s|mps5, formerly|mps1-s|mps1s|mucopolysaccharidosis type v, formerly|mpsis|mucopolysaccharidosis type is

Related symptoms:

  • Sensorineural hearing impairment
  • Visual impairment
  • Depressed nasal bridge
  • Hepatomegaly
  • Abnormality of the skeletal system


SOURCES: OMIM ORPHANET MENDELIAN

More info about SCHEIE SYNDROME

High match MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D


The mucopolysaccharidoses are a family of lysosomal storage diseases caused by deficiencies of enzymes required for the catabolism of glycosaminoglycans. The defects result in accumulation of excessive intralysosomal glycosoaminoglycans (mucopolysaccharides) in various tissues, causing distended lysosomes to accumulate in the cell and interfere with cell function. Multiple types have been described (Mok et al., 2003).

MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D Is also known as sanfilippo syndrome d|mps iiid|n-acetylglucosamine-6-sulfatase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D

High match 8P11.2 DELETION SYNDROME


8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism.

8P11.2 DELETION SYNDROME Is also known as del(8)(p11.2)|monosomy 8p11.2

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about 8P11.2 DELETION SYNDROME

High match MUCOPOLYSACCHARIDOSIS, TYPE IIIC; MPS3C


Sanfilippo syndrome comprises several forms of lysosomal storage diseases due to impaired degradation of heparan sulfate. The deficient enzyme in Sanfilippo syndrome C, or MPS IIIC, is an acetyltransferase that catalyzes the conversion of alpha-glucosaminide residues to N-acetylglucosaminide in the presence of acetyl-CoA.For a general phenotypic description and a discussion of genetic heterogeneity of Sanfilippo syndrome, see MPS IIIA (OMIM ).

MUCOPOLYSACCHARIDOSIS, TYPE IIIC; MPS3C Is also known as sanfilippo syndrome c|mps iiic|acetyl-coa:alpha-glucosaminide n-acetyltransferase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIIC; MPS3C

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 Splenomegaly

Symptoms // Phenotype % cases
Hepatomegaly Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Wide mouth Joint stiffness Hepatosplenomegaly Abnormal facial shape Short neck Wide anterior fontanel Hearing impairment Skeletal dysplasia Coarse facial features Dysostosis multiplex Intellectual disability Seizures Epicanthus Synophrys Limb undergrowth Frontal bossing Patent ductus arteriosus Atrial septal defect Respiratory failure Growth delay Respiratory tract infection

Rare Symptoms - Less than 30% cases


Long philtrum Cirrhosis Abnormality of the kidney Coarctation of aorta Edema Hepatic fibrosis Intrauterine growth retardation Situs inversus totalis Sensorineural hearing impairment Abnormality of the skeletal system Polyhydramnios Hernia Hirsutism Cellular metachromasia Ovoid thoracolumbar vertebrae Thickened ribs Heparan sulfate excretion in urine Asymmetric septal hypertrophy Growth abnormality Coarse hair Recurrent upper respiratory tract infections Hypertrichosis Sleep disturbance Hyperactivity Glaucoma Behavioral abnormality Diarrhea Anteverted nares Dysphagia Everted lower lip vermilion Narrow chest Asthma Respiratory insufficiency Macrocephaly Scoliosis Umbilical hernia Recurrent pneumonia Brachydactyly Short ribs Bell-shaped thorax Mandibular prognathia Thin vermilion border Abnormality of epiphysis morphology Micromelia Short nose Pneumonia Recurrent respiratory infections Platyspondyly Vertebral hypoplasia Hyperlordosis Flat acetabular roof Delayed epiphyseal ossification Severe short stature Metaphyseal irregularity Hoarse voice Flexion contracture Lumbar hyperlordosis Abnormality of the ribs Absent speech Prominent forehead Dysarthria Nail dystrophy Round face Difficulty walking Aggressive behavior Wormian bones Abdominal distention Thick lower lip vermilion Chronic diarrhea Progressive hearing impairment Drooling Joint hyperflexibility Joint laxity Arthralgia Thick eyebrow Abnormal nerve conduction velocity Tricuspid atresia Aortic regurgitation Apnea Metaphyseal widening Corneal opacity Genu valgum Retinal degeneration Wide nose Thick vermilion border Genu varum Full cheeks Syncope Limitation of joint mobility Aortic valve stenosis Spastic paraparesis Cerebral palsy Cervical cord compression Sleep apnea Stridor Rhinitis Obstructive sleep apnea Spinal cord compression Coxa vara Mitral stenosis Broad face Spondylolisthesis Constrictive median neuropathy Abnormality of peripheral nerve conduction Mucopolysacchariduria Urinary glycosaminoglycan excretion Gait disturbance Micrognathia Pain Disproportionate short-limb short stature Muscular hypotonia Pectus excavatum Delayed skeletal maturation Short palm Small hand Short foot Tapered finger Short metacarpal Blue sclerae Abnormality of the metaphysis Broad thumb Large fontanelles Rhizomelia Short long bone Dense calvaria Relative macrocephaly Prominent supraorbital ridges Flat occiput Hypophosphatemia Protuberant abdomen Metaphyseal cupping Renal phosphate wasting Hypoplastic ischia Hypoplastic vertebral bodies Anterior rib cupping Hypoplastic pubic bone Abnormally ossified vertebrae Squared iliac bones Severe platyspondyly Generalized hypotonia Motor deterioration Microcephaly Mitral valve prolapse Nystagmus Visual impairment Cryptorchidism High palate Feeding difficulties Talipes equinovarus Upslanted palpebral fissure Hypogonadism Blepharophimosis Iris coloboma Hemolytic anemia Retinal dystrophy Microcornea Hypoplasia of penis Loss of speech Hypogonadotrophic hypogonadism Azoospermia Sacral dimple Anosmia Preauricular pit External ear malformation Abnormality of the hypothalamus-pituitary axis Spherocytosis Supernumerary ribs Motor delay Rod-cone dystrophy Kyphoscoliosis Dolichocephaly Restlessness Pes cavus Accessory oral frenulum Partial atrioventricular canal defect Patent foramen ovale Abnormal bleeding Oligohydramnios Fibular overgrowth Pancytopenia Telangiectasia Short iliac bones Narrow vertebral interpedicular distance Decreased liver function Hydrops fetalis Narrow greater sacrosciatic notches Cutis laxa Deep philtrum Poor suck Clitoral hypertrophy Central vertebral hypoplasia Dextrocardia Premature skin wrinkling Biventricular hypertrophy Micronodular cirrhosis Functional respiratory abnormality Infra-orbital crease Abnormality of the clitoris Increased serum bile acid concentration Abnormality of glutamine metabolism Abnormality of the abdominal wall Hypertension Spondyloepimetaphyseal dysplasia Upper airway obstruction Triangular face Abnormal epiphyseal ossification Recurrent infections Blepharitis Neutropenia Palmoplantar keratoderma Cough Otitis media Eczema Cutaneous photosensitivity Recurrent otitis media Skin rash Conjunctivitis Myelodysplasia Increased antibody level in blood Atrophic scars Wheezing Osteosarcoma Small for gestational age Poikiloderma Subungual hyperkeratosis Hyperkeratosis Failure to thrive Anemia Ventricular septal defect Alopecia Midface retrusion Thrombocytopenia Malar flattening Hydronephrosis Cataract Short philtrum Short femur Vertebral compression fractures Hypoplasia of the epiglottis Mesomelia Short femoral neck Cleft lip Flared metaphysis Oral cleft Cleft upper lip Postaxial polydactyly Hypodontia Nail dysplasia Postaxial hand polydactyly Small nail Horseshoe kidney Cutaneous syndactyly Cone-shaped epiphysis Atrioventricular canal defect Polydactyly Metaphyseal dysplasia Hamartoma Increased number of teeth Spinal canal stenosis Short clavicles Median cleft lip Thoracic dysplasia Vaginal atresia Complete atrioventricular canal defect Horizontal ribs Carious teeth Bilateral postaxial polydactyly Hydrometrocolpos Thoracic hypoplasia Syndactyly Diabetes mellitus Congenital glaucoma Hypothyroidism Osteopenia Thin upper lip vermilion Craniosynostosis Abnormality of the liver Renal cyst Sepsis Hepatitis Bilateral sensorineural hearing impairment Choanal atresia Cholestasis Polycystic kidney dysplasia Portal hypertension Congenital hypothyroidism Respiratory distress Enlarged kidney Hiatus hernia Thoracolumbar scoliosis Esophageal varix Buphthalmos Sagittal craniosynostosis Cystic renal dysplasia Pancreatic cysts Pancreatic hypoplasia Splenic cyst Disproportionate short stature Downslanted palpebral fissures Short thorax Posterior rib cupping



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