Depressed nasal bridge, and Postaxial polydactyly

Diseases related with Depressed nasal bridge and Postaxial polydactyly

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


Top matches:

High match JOUBERT SYNDROME 32; JBTS32


JBTS32 is an autosomal recessive developmental disorder characterized by delayed psychomotor development, intellectual disability, dysmorphic facial features, and postaxial polydactyly. Brain imaging shows cerebellar abnormalities consistent with the molar tooth sign (MTS) (summary by De Mori et al., 2017).For discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 32; JBTS32

High match POSTAXIAL POLYDACTYLY-ANTERIOR PITUITARY ANOMALIES-FACIAL DYSMORPHISM SYNDROME


Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis disorder characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination.

POSTAXIAL POLYDACTYLY-ANTERIOR PITUITARY ANOMALIES-FACIAL DYSMORPHISM SYNDROME Is also known as pallister-hall syndrome 2, formerly|culler-jones syndrome|phs2, formerly

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about POSTAXIAL POLYDACTYLY-ANTERIOR PITUITARY ANOMALIES-FACIAL DYSMORPHISM SYNDROME

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

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Other less relevant matches:

High match MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7; MC3DN7


Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7; MC3DN7

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 HYPOTHALAMIC HAMARTOMAS


Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOTHALAMIC HAMARTOMAS

High match OROFACIODIGITAL SYNDROME XVI; OFD16


OROFACIODIGITAL SYNDROME XVI; OFD16 Is also known as oral-facial-digital syndrome, type xvi|ofds xvi

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Muscular hypotonia
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME XVI; OFD16

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 ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO


Ornithine transcarbamylase deficiency is an X-linked inborn error of metabolism of the urea cycle which causes hyperammonemia. The disorder is treatable with supplemental dietary arginine and low protein diet.Urea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Five disorders involving different defects in the biosynthesis of the enzymes of the urea cycle have been described: OTC deficiency, carbamyl phosphate synthetase deficiency (OMIM ), argininosuccinate synthetase deficiency, or citrullinemia (OMIM ), argininosuccinate lyase deficiency (OMIM ), and arginase deficiency (OMIM ).

ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO Is also known as ornithine carbamoyltransferase deficiency|otc deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO

High match SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY; SRTD16


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:

  • Short stature
  • Low-set ears
  • Motor delay
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY; SRTD16

Top 5 symptoms//phenotypes associated to Depressed nasal bridge and Postaxial polydactyly

Symptoms // Phenotype % cases
Polydactyly Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Cleft palate Uncommon - Between 30% and 50% cases
Oral cleft Uncommon - Between 30% and 50% cases
Cleft lip Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Seizures Short ribs Macrocephaly Narrow chest Ventricular septal defect Ataxia Micropenis Abnormality of cardiovascular system morphology Abnormal heart morphology Respiratory insufficiency Short stature Molar tooth sign on MRI Intellectual disability Pulmonary hypoplasia Thoracic dysplasia Low-set ears

Rare Symptoms - Less than 30% cases


Bilateral postaxial polydactyly Micromelia Preaxial polydactyly Hernia Brachydactyly Failure to thrive Epicanthus Short palpebral fissure Edema Generalized hypotonia Hamartoma Hydrocephalus Polyhydramnios Motor delay Oculomotor apraxia Hypertelorism Polymicrogyria Intellectual disability, mild Midface retrusion Cryptorchidism Cerebellar vermis hypoplasia Growth delay Telecanthus Coloboma Congenital diaphragmatic hernia Sandal gap Hydrops fetalis Thoracic hypoplasia Short phalanx of finger Limb undergrowth Abnormality of the pinna Short metacarpal Anencephaly Upper limb undergrowth Retinal coloboma Aplastic clavicle Widely spaced teeth Short metatarsal Agenesis of corpus callosum Heterotopia Cone-shaped epiphyses of the phalanges of the hand Inguinal hernia Retrognathia Protuberant abdomen Apnea Retinopathy Inability to walk Intestinal malrotation Short thorax Hyporeflexia Teratoma Hamartoma of tongue Sacrococcygeal teratoma Cone-shaped epiphysis Abnormality of the skeletal system Short neck Atrial septal defect Spasticity Short upper lip Anteverted nares Peripheral neuropathy Dolichocephaly Episodic ataxia Cerebral edema Episodic vomiting Short distal phalanx of finger Wide nasal base Carious teeth Hypermetropia Paranoia Oroticaciduria Acute hepatic failure Respiratory alkalosis Hypoargininemia Protein avoidance Hyperglutaminemia Episodic ammonia intoxication Low plasma citrulline Wide nasal bridge Respiratory distress Hypoplasia of the corpus callosum Alkalosis Hyperammonemia High forehead Irritability Vomiting Headache Cerebral atrophy Hypospadias Encephalopathy Thin upper lip vermilion Carcinoma Mental deterioration Stroke Full cheeks Lethargy Smooth philtrum Confusion Hepatic failure Coma Gliosis Intellectual disability, severe Thick lower lip vermilion Pancreatitis Aciduria Micrognathia Ventriculomegaly Severe short stature Poor appetite Panhypopituitarism Adrenocorticotropic hormone deficiency Microphallus Anterior pituitary hypoplasia Ectopic posterior pituitary Abnormality of metabolism/homeostasis Narrow mouth High pitched voice Abnormal cardiac septum morphology Bifid uvula Tetralogy of Fallot Coarctation of aorta Hypocalcemia Nasal speech Broad hallux Transposition of the great arteries Hypopituitarism Diabetes insipidus Hypoparathyroidism Elongated superior cerebellar peduncle Nystagmus Abnormal facial shape Dysarthria Frontal bossing Abnormal cerebellum morphology Apraxia Tall stature Large for gestational age Pain Bilateral cryptorchidism Delayed skeletal maturation Hypogonadism Abdominal pain Cleft upper lip Growth hormone deficiency Hypotelorism Depressed nasal ridge Holoprosencephaly Submucous cleft hard palate Double outlet right ventricle Cognitive impairment Postaxial hand polydactyly Femoral bowing Lateral clavicle hook Pancreatic fibrosis Acetabular spurs Neoplasm Short nose Skeletal dysplasia Hip dislocation Renal dysplasia Ambiguous genitalia Occipital encephalocele Median cleft lip Microglossia Anterior hypopituitarism Glioma Hypothalamic hamartoma Muscular hypotonia Ptosis Short long bone Syndactyly Truncus arteriosus Upslanted palpebral fissure Maternal diabetes Pulmonary artery atresia Complete atrioventricular canal defect Aortopulmonary window Anomalous origin of one pulmonary artery from ascending aorta Hearing impairment Sensorineural hearing impairment Intrauterine growth retardation Hyperactivity Hepatomegaly Acidosis Neonatal hypotonia Aggressive behavior Synophrys Poor speech Metabolic acidosis Renal tubular acidosis Proximal renal tubular acidosis Flat acetabular roof



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