Depressed nasal bridge, and Polydactyly

Diseases related with Depressed nasal bridge and Polydactyly

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


Top matches:

Medium 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

Medium match CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF


Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, {222600}). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).

Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Low-set ears
  • Depressed nasal bridge
  • Downslanted palpebral fissures


SOURCES: OMIM MENDELIAN

More info about CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF

Medium 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

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Other less relevant matches:

Medium 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

Medium 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

Medium 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

Medium match MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME


Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism.

MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME Is also known as megalencephaly-cutis marmorata telangiectatica congenita syndrome|macrocephaly-capillary malformation syndrome|mcmtc|mcap|megalencephaly-capillary malformation syndrome|macrocephaly-cutis marmorata telangiectatica congenita syndrome|mcm

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Neoplasm
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME

Medium match JACKSON-WEISS SYNDROME; JWS


JACKSON-WEISS SYNDROME; JWS Is also known as craniosynostosis, midfacial hypoplasia, and foot abnormalities

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Ptosis


SOURCES: MESH OMIM MENDELIAN

More info about JACKSON-WEISS SYNDROME; JWS

Medium match HYPOTHALAMIC HAMARTOMAS


Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOTHALAMIC HAMARTOMAS

Medium 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

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

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases
Postaxial polydactyly Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Macrocephaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism Seizures Frontal bossing Ventricular septal defect Hydrocephalus Abnormality of cardiovascular system morphology

Rare Symptoms - Less than 30% cases


Midface retrusion Cryptorchidism Micropenis Short stature Cleft lip Oral cleft Hamartoma Neoplasm Ptosis Abnormal heart morphology Short palpebral fissure Broad hallux Preaxial polydactyly Failure to thrive Syndactyly Pulmonary hypoplasia Short ribs Ventriculomegaly Foot polydactyly Muscular hypotonia Molar tooth sign on MRI Ataxia Low-set ears Oculomotor apraxia Intellectual disability, mild Polymicrogyria Anterior hypopituitarism Nevus flammeus Arteriovenous malformation Cerebral ischemia Visceral angiomatosis Abnormality of nervous system morphology Asymmetric growth Inability to walk Strabismus Hypermelanotic macule Abnormality of the skeletal system Malar flattening Headache Proptosis Mandibular prognathia Abnormality of the pinna Telangiectasia of the skin Hand polydactyly Cutis marmorata Wide mouth Optic atrophy Hamartoma of tongue Teratoma Arrhythmia Heterotopia High forehead Deeply set eye Finger syndactyly Aplasia/Hypoplasia of the cerebellum Toe syndactyly Intestinal malrotation Facial asymmetry Joint hyperflexibility Full cheeks Arnold-Chiari malformation Craniosynostosis Retinopathy Apnea Genu valgum Postaxial hand polydactyly Micrognathia Short nose Skeletal dysplasia Hernia Intellectual disability, severe Hip dislocation Micromelia Motor delay Hallux varus Cognitive impairment Renal dysplasia Occipital encephalocele Generalized hypotonia Hypothalamic hamartoma Median cleft lip Glioma Calcaneonavicular fusion Broad metatarsal Microglossia Retrognathia Hypoplasia of the maxilla Convex nasal ridge Epidermal acanthosis Acanthosis nigricans Abnormal palate morphology Short metatarsal 2-3 toe syndactyly Underdeveloped supraorbital ridges Craniofacial dysostosis Shallow orbits Split foot Turricephaly Preaxial foot polydactyly Broad hallux phalanx Inguinal hernia Abnormality of fibula morphology Anterior plagiocephaly Symphalangism affecting the phalanges of the hand Proximal renal tubular acidosis Acetabular spurs Holoprosencephaly Delayed skeletal maturation Hypogonadism Abdominal pain Cleft upper lip Growth hormone deficiency Hypotelorism Depressed nasal ridge Bilateral cryptorchidism Growth delay Diabetes insipidus High pitched voice Hypopituitarism Poor appetite Panhypopituitarism Adrenocorticotropic hormone deficiency Microphallus Anterior pituitary hypoplasia Pain Median cleft palate Ectopic posterior pituitary Elongated superior cerebellar peduncle Nystagmus Abnormal facial shape Dysarthria Abnormal cerebellum morphology Apraxia Cerebellar vermis hypoplasia Tall stature Large for gestational age Downslanted palpebral fissures Patellar hypoplasia Talipes equinovarus Hypoplasia of the corpus callosum Pes planus Talipes Hip dysplasia Cardiomegaly Pterygium Bilateral talipes equinovarus Bilateral postaxial polydactyly Abnormality of metabolism/homeostasis Pancreatic fibrosis Hepatomegaly Hyperactivity Acidosis Neonatal hypotonia Aggressive behavior Synophrys Poor speech Metabolic acidosis Renal tubular acidosis Brachydactyly Intrauterine growth retardation Respiratory insufficiency Polyhydramnios Narrow chest Ambiguous genitalia Short long bone Femoral bowing Thoracic dysplasia Lateral clavicle hook Upslanted palpebral fissure Epicanthus Severe short stature Submucous cleft hard palate Narrow mouth Abnormal cardiac septum morphology Bifid uvula Tetralogy of Fallot Coarctation of aorta Hypocalcemia Nasal speech Transposition of the great arteries Hypoparathyroidism Sensorineural hearing impairment Double outlet right ventricle Truncus arteriosus Maternal diabetes Pulmonary artery atresia Complete atrioventricular canal defect Aortopulmonary window Anomalous origin of one pulmonary artery from ascending aorta Hearing impairment Sacrococcygeal teratoma



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