Brachydactyly, and Bifid uvula

Diseases related with Brachydactyly and Bifid uvula

In the following list you will find some of the most common rare diseases related to Brachydactyly and Bifid uvula that can help you solving undiagnosed cases.


Top matches:

Medium match PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2; PRAAS2


Proteasome-associated autoinflammatory syndrome-2 is an autosomal dominant disorder with onset in early infancy. Affected individuals develop severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency (summary by Poli et al., 2018).For a discussion of genetic heterogeneity of PRAAS, see PRAAS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Brachydactyly
  • Fever


SOURCES: OMIM MENDELIAN

More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2; PRAAS2

Medium match LETHAL POLYMALFORMATIVE SYNDROME, BOISSEL TYPE


Lethal polymalformative syndrome, Boissel type is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by failure to thrive, severe developmental delay, severe postanatal microcephaly, frequent congenital cardiac defects and characteristic facial dysmorphysm (including coarse face with anteverted nostrils, thin vermillion, prominent alveolar ridge and retro- or micrognatia). Additional common features include neurologic abnormalities (hyper-/hypotonia, sensorineural deafness, hydrocephalus, cerebral atrophy, seizures), as well as brachydactyly, cutis marmorata and genital anomalies.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LETHAL POLYMALFORMATIVE SYNDROME, BOISSEL TYPE

Medium match OROFACIODIGITAL SYNDROME TYPE 2


Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas.

OROFACIODIGITAL SYNDROME TYPE 2 Is also known as oral-facial-digital syndrome, type ii|ofd2|orofaciodigital syndrome ii|oral-facial-digital syndrome type 2|ofds ii|mohr syndrome

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 2

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Other less relevant matches:

Medium match OROFACIODIGITAL SYNDROME I; OFD1


Orofaciodigital syndrome type I (OFD1) is characterized by malformations of the face, oral cavity, and digits and is transmitted as an X-linked dominant condition with lethality in males. Thickened alveolar ridges and abnormal dentition, including absent lateral incisors, are additional characteristics of OFD1. The central nervous system may also be involved in as many as 40% of cases. Although these clinical features overlap those reported in other forms of orofaciodigital syndrome, OFD1 can be easily distinguished from among these by its X-linked dominant inheritance pattern and by polycystic kidney disease, which seems to be specific to type I (summary by Ferrante et al., 2001).Since the CXORF5 gene localizes to the centrosome and basal body of primary cilia, OFD1 is considered to be a ciliopathy (Chetty-John et al., 2010).

OROFACIODIGITAL SYNDROME I; OFD1 Is also known as oral-facial-digital syndrome, type i|papillon-leage and psaume syndrome|ofds i

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME I; OFD1

Medium match MARFAN SYNDROME TYPE 1


MARFAN SYNDROME TYPE 1 Is also known as aortic aneurysm, familial thoracic 3|marfan syndrome, type ii, formerly|mfs1|aat3

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MARFAN SYNDROME TYPE 1

Medium match OROFACIODIGITAL SYNDROME TYPE 4


Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet.

OROFACIODIGITAL SYNDROME TYPE 4 Is also known as oral-facial-digital syndrome, type iv|ofd syndrome with tibial defects|ofd syndrome, baraitser-burn type|mohr-majewski syndrome|ofds iv|oral-facial-digital syndrome type 4|ofd4|baraitser-burn syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 4

Medium match MICROPHTHALMIA WITH BRAIN AND DIGIT ANOMALIES


Microphthalmia with brain and digit anomalies is characterised by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development.

MICROPHTHALMIA WITH BRAIN AND DIGIT ANOMALIES Is also known as microphthalmia and pituitary anomalies|microphthalmia with brain and digit developmental anomalies|syndromic microphthalmia type 6|anophthalmia, clinical, with micrognathia, malformed ears, digital anomalies, and abnormal external genitalia|bakrania-ragge

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MICROPHTHALMIA WITH BRAIN AND DIGIT ANOMALIES

Medium match ACROCALLOSAL SYNDROME; ACLS


The acrocallosal syndrome is an autosomal recessive mental retardation syndrome with brain abnormalities such as corpus callosum agenesis and/or Dandy-Walker malformation as well as dysmorphic features, postaxial polydactyly of the hands, and preaxial polydactyly of the feet (Schinzel and Schmid, 1980). It is considered a ciliopathy (Putoux et al., 2011).Joubert syndrome-12 is a disorder with an overlapping phenotype characterized by the hallmark finding of the molar tooth sign (MTS) on brain MRI. For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.Hydrolethalus-2 (HLS2 ) is an allelic disorder with a more severe phenotype and death in utero.

ACROCALLOSAL SYNDROME; ACLS Is also known as hallux duplication, postaxial polydactyly, and absence of corpus callosum|schinzel acrocallosal syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about ACROCALLOSAL SYNDROME; ACLS

Medium match PALLISTER-HALL SYNDROME; PHS


Pallister-Hall syndrome is a pleiotropic autosomal dominant disorder comprising hypothalamic hamartoma, pituitary dysfunction, central polydactyly, and visceral malformations (Biesecker et al., 1996).

PALLISTER-HALL SYNDROME; PHS Is also known as hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about PALLISTER-HALL SYNDROME; PHS

Top 5 symptoms//phenotypes associated to Brachydactyly and Bifid uvula

Symptoms // Phenotype % cases
Cleft palate Common - Between 50% and 80% cases
Polydactyly Common - Between 50% and 80% cases
Postaxial polydactyly Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Brachydactyly and Bifid uvula. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


High palate

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment

Common Symptoms - More than 50% cases


Micrognathia

Uncommon Symptoms - Between 30% and 50% cases


Syndactyly Growth delay Intellectual disability Hypertelorism Short stature Agenesis of corpus callosum Abnormal facial shape Retrognathia Abnormal heart morphology Wide nasal bridge Cryptorchidism Failure to thrive Microcephaly Hydrocephalus Clinodactyly Posteriorly rotated ears Low-set ears Postaxial foot polydactyly Toe syndactyly Preaxial hand polydactyly Microretrognathia Postaxial hand polydactyly Abnormality of the kidney Lobulated tongue Cleft lip Porencephalic cyst Tongue nodules Clinodactyly of the 5th finger Pectus excavatum Malar flattening Talipes equinovarus Generalized hypotonia Umbilical hernia Hypospadias Patent ductus arteriosus Downslanted palpebral fissures Anal atresia Finger syndactyly Epicanthus Sensorineural hearing impairment Median cleft lip Intrauterine growth retardation Ventricular septal defect Arachnoid cyst Short nose Limb undergrowth Frontal bossing Hernia Micropenis Abnormality of cardiovascular system morphology

Rare Symptoms - Less than 30% cases


Facial asymmetry Oral cleft Abnormality of the dentition External genital hypoplasia Mesoaxial polydactyly Hamartoma Hepatic fibrosis Hypertension Hypoplasia of the epiglottis Aplasia/Hypoplasia of the corpus callosum Cutaneous syndactyly Renal cyst Cerebral atrophy Microphthalmia Cerebral cortical atrophy Ventriculomegaly Short philtrum Nystagmus Renal agenesis Cerebellar hypoplasia Decreased testicular size Choanal atresia Renal dysplasia Rectovaginal fistula Foot polydactyly Mesomelia Feeding difficulties Hypothyroidism Molar tooth sign on MRI Craniosynostosis Cleft upper lip Macrocephaly Hypothalamic hamartoma Myopia Inguinal hernia Proptosis Abnormal cardiac septum morphology Coloboma Broad forehead Microglossia Adrenal hypoplasia Renal hypoplasia Nail dysplasia Single transverse palmar crease Retinal dystrophy Accessory oral frenulum Dilatation Scoliosis Preaxial polydactyly Anteverted nares Hypoplasia of the corpus callosum Depressed nasal bridge Abnormality of the skeletal system Long philtrum Absent speech Conductive hearing impairment Telecanthus Apnea Abnormal cerebellum morphology Severe global developmental delay Thin vermilion border Pes planus Natal tooth Small nail Atrioventricular canal defect Dandy-Walker malformation Preaxial foot polydactyly Abnormality of digit Bifid tongue Plagiocephaly Midface retrusion Rib fusion Abnormal lung lobation Microphallus Chorioretinal coloboma Blindness Bilateral choanal atresia Mandibular aplasia Vaginal atresia Brachycephaly High myopia Panhypopituitarism Decreased circulating cortisol level Macrotia High forehead Upper airway obstruction Cataract Protruding ear Severe muscular hypotonia Short 4th metacarpal Iris coloboma Abnormal vertebral morphology Oligodactyly Microcornea Hydrometrocolpos Ptosis Radial head subluxation Subcortical cerebral atrophy Aplasia/Hypoplasia of the tibia Hamartoma of tongue Preductal coarctation of the aorta Abnormal oral frenulum morphology Abnormality of the gingiva Abnormal oral mucosa morphology Abnormality of the tongue Cerebral cortical hemiatrophy Distal shortening of limbs Short tibia Midline facial capillary hemangioma Mesoaxial foot polydactyly Primary adrenal insufficiency Submucous cleft hard palate Perineal fistula Absent testis Laryngeal cleft Monorchism Thyroid dysgenesis Muscular hypotonia Mesoaxial hand polydactyly Y-shaped metacarpals Anophthalmia Absent crus of helix Microtia, third degree Rectal atresia Oral synechia Distal urethral duplication Bifid epiglottis Primitive neuroectodermal tumor Aplasia/Hypoplasia of the mandible Bilateral lung agenesis Proximal placement of thumb Abnormality of the hypothalamus-pituitary axis Bifid scrotum Spontaneous abortion Anencephaly Growth hormone deficiency Partial agenesis of the corpus callosum Prominent occiput Diabetes insipidus Finger clinodactyly Abnormality of the genital system Hypoplasia of teeth Preauricular skin tag Wide anterior fontanel Omphalocele Open mouth Wide intermamillary distance Esotropia Diastasis recti Hip dislocation Hemivertebrae Cerebral hypoplasia Pulmonary valve defects Intracranial cystic lesion Behavioral abnormality Bifid distal phalanx of the thumb Duplication of thumb phalanx Duplication of phalanx of hallux Respiratory failure Hypopigmentation of the fundus Dyspnea Hydronephrosis Abnormal pulmonary valve morphology Respiratory tract infection Triangular mouth Microtia Tapered finger Smooth philtrum Short middle phalanx of finger Anterior pituitary hypoplasia Inferior vermis hypoplasia Female hypogonadism Adrenal insufficiency Ectopic kidney Abnormality of the cervical spine Hydroureter Lambdoidal craniosynostosis Orbital cyst Anterior hypopituitarism Neoplasm Delayed CNS myelination Sclerocornea Hypopituitarism Broad palm Bilateral cryptorchidism Uplifted earlobe Postnatal growth retardation Optic atrophy Abnormality of the pinna Intellectual disability, moderate Prominent forehead Intellectual disability, severe Holoprosencephaly Scrotal hypoplasia Strabismus Precocious puberty Ataxia Aplasia of the optic tract Small sella turcica Flexion contracture of thumb Atresia of the external auditory canal Small scrotum Occipital encephalocele Protrusio acetabuli Abnormal joint morphology Common atrium Renal insufficiency Tremor Dysarthria Partial duplication of the phalanges of the hallux Agenesis of central incisor Talon cusp Bilateral postaxial polydactyly Alopecia Complete atrioventricular canal defect Abnormality of the larynx Bifid nasal tip Abnormality of finger Flared metaphysis Metaphyseal irregularity Tachypnea Depressivity Proteinuria Broad nasal tip Agenesis of permanent teeth Dry hair Ovarian cyst Abnormality of the pancreas Abnormal cortical gyration Myelomeningocele Increased number of teeth Nephronophthisis Milia Sparse hair Radial deviation of finger Polycystic kidney dysplasia Hypoplasia of dental enamel Underdeveloped nasal alae Stage 5 chronic kidney disease Carious teeth Abnormality of the cerebral white matter Wormian bones Hypoplasia of the maxilla Pancreatic cysts Subcutaneous nodule Lymphadenitis Periorbital edema Recurrent viral infections Episodic fever Combined immunodeficiency Vasculitis Inflammatory abnormality of the skin Cardiomyopathy Everted lower lip vermilion Autoimmunity Scarring Thrombocytopenia Immunodeficiency Edema Fever Short neck Hypertonia Short palm Lissencephaly Cerebellar atrophy Skull asymmetry Periorbital fullness Severe failure to thrive Protruding tongue Cutis marmorata Failure to thrive in infancy Short chin Obesity Left ventricular hypertrophy Ventricular hypertrophy Delayed myelination Macroglossia Wide mouth Hypertrophic cardiomyopathy Coarse facial features Hepatic cysts Deviation of finger Short finger Recurrent respiratory infections Micromelia Talipes Abnormality of eye movement Camptodactyly of finger Skeletal dysplasia Severe short stature Generalized arterial tortuosity Wide nose Bicuspid pulmonary valve Spontaneous pneumothorax Descending thoracic aorta aneurysm Pulmonary artery aneurysm Absent distal phalanges Ascending aortic dissection Mild myopia Pulmonary hypoplasia High, narrow palate Arterial tortuosity Joint dislocation Abnormality of the ear Hypoplastic toenails Hand polydactyly Genu varum Laryngomalacia Renal hypoplasia/aplasia Abnormality of the outer ear Short ribs Specific learning disability Bowing of the long bones Encephalocele Split hand Depressed nasal ridge Interphalangeal joint contracture of finger Ambiguous genitalia Oligohydramnios Dural ectasia Thoracic aortic aneurysm Narrow naris Osteoporosis Joint hypermobility Arachnodactyly Dolichocephaly Pectus carinatum Camptodactyly Joint laxity Pes cavus Chest pain Atrial septal defect Pain Trident hand Abnormality of toe Multiple glomerular cysts Alveolar ridge overgrowth Gray matter heterotopias Recurrent fractures Mitral valve prolapse Ascending tubular aorta aneurysm Myopathic facies Dermal translucency Spondylolisthesis High anterior hairline Aortic dissection Dilatation of the cerebral artery Striae distensae Disproportionate tall stature Aortic aneurysm Blue sclerae Ectopia lentis Arnold-Chiari malformation Bicuspid aortic valve Narrow palate Joint contracture of the hand Exotropia Dental crowding Diverticulosis of trachea



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