Depressed nasal bridge, and Cleft upper lip

Diseases related with Depressed nasal bridge and Cleft upper lip

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

Top matches:

A rare disorder caused by mutations in the TGIF gene mapped to chromosome 18p11.3. It is characterized by semilobar holoprosencephaly, hypotelorism, and ptosis.

Related symptoms:

  • Ptosis
  • Depressed nasal bridge
  • Hypotelorism
  • Median cleft lip
  • Depressed nasal tip


SOURCES: OMIM MESH MENDELIAN

More info about HOLOPROSENCEPHALY 4; HPE4

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

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOTHALAMIC HAMARTOMAS

Other less relevant matches:

MICROPHTHALMIA WITH LIMB ANOMALIES; MLA Is also known as waardenburg anophthalmia syndrome|anophthalmia-syndactyly|ophthalmoacromelic syndrome|oas

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Cleft palate
  • Low-set ears
  • High palate


SOURCES: OMIM MENDELIAN

More info about MICROPHTHALMIA WITH LIMB ANOMALIES; MLA

High match FRASER SYNDROME

Fraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos and syndactyly.

FRASER SYNDROME Is also known as cryptophthalmos-syndactyly syndrome

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Hypertelorism
  • Cryptorchidism
  • High palate


SOURCES: ORPHANET MENDELIAN

More info about FRASER SYNDROME

Acromelic frontonasal dysplasia (AFND) is a rare variant of frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces ) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism.

ACROMELIC FRONTONASAL DYSPLASIA Is also known as toriello syndrome|acromelic frontonasal dysostosis|afnd

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACROMELIC FRONTONASAL DYSPLASIA

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

Hartsfield syndrome is a rare, genetic, developmental defect during embryogenesis malformation syndrome characterized by the association of variable degrees of holoprosencephaly and uni- or bilateral ectrodactyly of the hands and/or feet. Additional variable features, including facial dysmorphism (e.g. hypertelorism, short bulbous nose, long philtrum, dysplastic/low-set ears, cleft lip and palate, tented upper lip), other brain malformations (such as corpus callosum agenesis, absent septum pellucidum, absent olfactory bulbs/tracts, vermian hypoplasia), pituitary gland-related endocrine disorders (e.g. central diabetes insipidus, hypogonadotropic hypogonadism) and hypothalamic dysfunction, may be associated.

HARTSFIELD SYNDROME Is also known as holoprosencephaly-ectrodactyly-cleft lip/palate syndrome|holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about HARTSFIELD SYNDROME

Holoprosencephaly-9 refers to a disorder characterized by a wide phenotypic spectrum of brain developmental defects, with or without overt forebrain cleavage abnormalities. It usually includes midline craniofacial anomalies involving the first branchial arch and/or orbits, pituitary hypoplasia with panhypopituitarism, and postaxial polydactyly. The disorder shows incomplete penetrance and variable expressivity (summary by Roessler et al., 2003 and Bertolacini et al., 2012).For general phenotypic information and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (OMIM ).

HOLOPROSENCEPHALY 9; HPE9 Is also known as holoprosencephaly with microphthalmia and first branchial arch anomalies|pituitary anomalies with holoprosencephaly-like features

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 9; HPE9

RAPP-HODGKIN SYNDROME; RHS Is also known as ectodermal dysplasia, anhidrotic, with cleft lip/palate

Related symptoms:

  • Short stature
  • Hearing impairment
  • Micrognathia
  • Cleft palate
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about RAPP-HODGKIN SYNDROME; RHS

Top 5 symptoms//phenotypes associated to Depressed nasal bridge and Cleft upper lip

Symptoms // Phenotype % cases
Cleft lip Common - Between 50% and 80% cases
Median cleft lip Uncommon - Between 30% and 50% cases
Cryptorchidism Uncommon - Between 30% and 50% cases
Cleft palate Uncommon - Between 30% and 50% cases
Oral cleft Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Ptosis Microphthalmia Macrocephaly Polydactyly Pulmonary hypoplasia Postaxial hand polydactyly Wide nasal bridge Microcephaly Intellectual disability Micropenis Syndactyly Global developmental delay Short stature Hypotelorism Anophthalmia Anterior pituitary hypoplasia Agenesis of corpus callosum Hypospadias Seizures Holoprosencephaly Low-set ears Semilobar holoprosencephaly Postaxial polydactyly Growth delay Downslanted palpebral fissures Encephalocele Hypertelorism

Rare Symptoms - Less than 30% cases

Ventricular septal defect Ectrodactyly Small nail Hypoplasia of the maxilla Low-set, posteriorly rotated ears Hemivertebrae Horseshoe kidney Split hand Short palpebral fissure Toe syndactyly Posteriorly rotated ears Conductive hearing impairment Calvarial skull defect Finger syndactyly Epicanthus Protruding ear Ectodermal dysplasia Non-midline cleft lip Coarctation of aorta Hypodontia Respiratory distress Respiratory insufficiency Sparse eyelashes Dental malocclusion Sparse and thin eyebrow Craniosynostosis Telecanthus Alopecia Vaginal atresia Cutaneous syndactyly Underdeveloped nasal alae Hypohidrosis Sparse hair Talipes equinovarus Micrognathia Renal dysplasia Hip dislocation Skeletal dysplasia Abnormality of cardiovascular system morphology Short nose Hydrocephalus Bilateral postaxial polydactyly Hamartoma Panhypopituitarism Hypopituitarism Depressed nasal ridge Growth hormone deficiency Hypogonadism Midface retrusion Median cleft lip and palate Short ribs Diabetes insipidus High palate Fibular hypoplasia Malar flattening Aplasia/Hypoplasia of the radius Megalocornea Gonadotropin deficiency Central diabetes insipidus Long hallux Hypernatremia Duplication of thumb phalanx Hypoplasia of the frontal bone Lobar holoprosencephaly Retrognathia Macrotia Absent septum pellucidum Short philtrum Microtia Pulmonic stenosis Depressed nasal tip Sloping forehead Preauricular skin tag Optic nerve hypoplasia Patent foramen ovale Heart murmur Neurodevelopmental delay Partial agenesis of the corpus callosum Absent nasal septal cartilage Abnormality of digit Skin tags Hydrometrocolpos Cone-shaped epiphysis Mesomelia Atrioventricular canal defect Metaphyseal dysplasia Increased number of teeth Spinal canal stenosis Short clavicles Thoracic dysplasia Complete atrioventricular canal defect Horizontal ribs Accessory oral frenulum Hypoplasia of the epiglottis Pain Partial atrioventricular canal defect Intrauterine growth retardation Neonatal hypotonia Delayed skeletal maturation Severe global developmental delay Wide nose Postnatal growth retardation Intellectual disability, profound Aplasia/Hypoplasia of the corpus callosum Poor head control Hypoplasia of the brainstem Bilateral cleft lip Bilateral cleft lip and palate Abdominal pain Cystic renal dysplasia Supernumerary nipple Submucous cleft hard palate Generalized hyperpigmentation Narrow nose Hypoplastic labia majora Dystrophic toenail Pili torti Dystrophic fingernails Conical tooth Thick nail Dry hair Anhidrotic ectodermal dysplasia Coarse hair Hypohidrotic ectodermal dysplasia Ankyloblepharon Hyperconvex nail Velopharyngeal insufficiency Trichodysplasia Hyperconvex fingernails Absent lacrimal punctum Pili canaliculi Submucous cleft soft palate Small, conical teeth Progressive alopecia Abnormality of the voice Widely spaced teeth Abnormal cortical gyration Agenesis of incisor Large forehead Wide cranial sutures Single median maxillary incisor Prominent antihelix Alobar holoprosencephaly Thoracic hemivertebrae Hypoplasia of the premaxilla Underdeveloped tragus Single naris Short hard palate Anterior pituitary agenesis Asymmetric ventricles Abnormality of dental enamel Diastolic heart murmur Hearing impairment Clinodactyly of the 5th finger Narrow mouth High forehead Hypotrichosis Delayed eruption of teeth Palmoplantar keratoderma Bifid uvula Fine hair Recurrent otitis media Thin skin Blepharophimosis Limb undergrowth Frontal bossing Abnormal hair pattern Scrotal hypoplasia Atresia of the external auditory canal Vertebral segmentation defect Anal stenosis External ear malformation Abnormal lung lobation Myelomeningocele Tracheal stenosis Abnormality of the hair Ectopic anus Bifid tongue Bicornuate uterus Dental crowding Abnormal vertebral morphology Abnormal vagina morphology Subglottic stenosis Laryngeal stenosis Abnormality of the middle ear Female pseudohermaphroditism Urethral atresia Cryptophthalmos Cleft ala nasi Wide pubic symphysis Lacrimal duct aplasia Multicystic kidney dysplasia Glioma Malformed lacrimal duct Blindness Short femur Abnormal renal morphology Hand oligodactyly Flared nostrils Foot oligodactyly Metacarpal synostosis Camptodactyly of 2nd-5th fingers Fused fourth and fifth metacarpals Oligodactyly Occipital encephalocele Tibial bowing Microglossia Omphalocele Umbilical hernia Micromelia Deep philtrum Sandal gap Anal atresia Abnormal heart morphology Anterior hypopituitarism Wide intermamillary distance Ambiguous genitalia Hypoplasia of penis Renal hypoplasia Midline nasal groove Myopia Postaxial foot polydactyly Abnormal facial shape Large sella turcica Median cleft palate Retrocerebellar cyst Decreased lacrimation Choroid plexus cyst Dermoid cyst Aplasia/Hypoplasia of the tibia Hypoplasia of the olfactory bulb Midline central nervous system lipomas Abnormality of the glabella Scoliosis High pitched voice Thick nasal alae Hepatomegaly Brachydactyly Prominent forehead Bilateral cryptorchidism Splenomegaly Patent ductus arteriosus Polyhydramnios Hepatosplenomegaly Narrow chest Single transverse palmar crease Nail dysplasia Parietal foramina Patellar hypoplasia Ventriculomegaly Adrenocorticotropic hormone deficiency Hypoplasia of the corpus callosum Neoplasm Ectopic posterior pituitary Hyperhidrosis Upslanted palpebral fissure Brachycephaly Glaucoma Hyperkeratosis Hypothalamic hamartoma Wide mouth Microphallus Broad nasal tip Broad columella Cerebellar vermis hypoplasia Large fontanelles Poor appetite Abnormality of the cardiovascular system Meningocele Coronal craniosynostosis Abnormal toenail morphology Upper airway obstruction Preaxial foot polydactyly Bifid nasal tip Alopecia totalis Bifid nose Decreased number of sweat glands


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Fatigue, related diseases and genetic alterations Depressed nasal bridge and Convex nasal ridge, related diseases and genetic alterations Peripheral neuropathy and Arthritis, related diseases and genetic alterations Hypertension and Pectus excavatum, related diseases and genetic alterations Myopathy and Bilateral sensorineural hearing impairment, related diseases and genetic alterations Optic atrophy and Decreased testicular size, related diseases and genetic alterations