Brachydactyly, and Smooth philtrum

Diseases related with Brachydactyly and Smooth philtrum

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


Top matches:

Medium match HOLOPROSENCEPHALY 7; HPE7


Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. Considerable heterogeneity in the genetic causes of HPE has been demonstrated (Ming et al., 2002).

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 7; HPE7

Medium match AYME-GRIPP SYNDROME; AYGRP


Ayme-Gripp syndrome is a clinically homogeneous phenotype characterized by congenital cataracts, sensorineural hearing loss, intellectual disability, seizures, brachycephaly, a distinctive flat facial appearance, and reduced growth (Niceta et al., 2015).

AYME-GRIPP SYNDROME; AYGRP Is also known as cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AYME-GRIPP SYNDROME; AYGRP

Medium match CORNELIA DE LANGE SYNDROME 4; CDLS4


Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Cleft palate
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 4; CDLS4

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Other less relevant matches:

Medium match CORNELIA DE LANGE SYNDROME 3; CDLS3


Cornelia de Lange syndrome is a multisystem developmental disorder characterized by distinctive facial dysmorphism, pre- and postnatal growth failure, delayed psychomotor development and intellectual disability, hypertrichosis, and sometimes distal limb malformations (summary by Gil-Rodriguez et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see {122470}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 3; CDLS3

Medium match CRANIOECTODERMAL DYSPLASIA 4; CED4


Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by Arts et al., 2011).For a discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (OMIM ).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hypertension
  • Brachydactyly
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA 4; CED4

Medium match TRICHORHINOPHALANGEAL SYNDROME TYPE 1 AND 3


Trichorhinophalangeal syndromes (TRPS) type 1 and 3 are malformation syndromes characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses, as well as severe generalized shortening of all phalanges, metacarpals and metatarsal bones.

TRICHORHINOPHALANGEAL SYNDROME TYPE 1 AND 3 Is also known as sugio-kajii syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Micrognathia


SOURCES: ORPHANET OMIM MENDELIAN

More info about TRICHORHINOPHALANGEAL SYNDROME TYPE 1 AND 3

Medium match SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION


Syndromic X-linked intellectual disability due to JARID1C mutation is characterised by mild to severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioural problems. To date, it has been described in less than 15 families. Transmission is X-linked recessive and the syndrome is caused by mutations in the JARID1C (SMCX) gene encoding a JmjC-domain protein with histone demethylase activity.

SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION Is also known as mental retardation, x-linked, syndromic, jarid1c-related|mrxsj

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION

Medium match CRANIOECTODERMAL DYSPLASIA 2; CED2


Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by Arts et al., 2011).For a discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA 2; CED2

Medium match CORNELIA DE LANGE SYNDROME 2; CDLS2


Cornelia de Lange syndrome is a clinically heterogeneous developmental disorder characterized by malformations affecting multiple systems. Affected individuals have dysmorphic facial features, cleft palate, distal limb defects, growth retardation, and developmental delay. About 4 to 6% of patients have mutations in the X-linked SMC1A gene, whereas about 60% have mutations in the NIPBL gene (OMIM ) on chromosome 5p13 (CDLS1 ) (summary by Musio et al., 2006, Hoppman-Chaney et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see {122470}.

CORNELIA DE LANGE SYNDROME 2; CDLS2 Is also known as cornelia de lange syndrome, x-linked|cdls, x-linked

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 2; CDLS2

Medium match 22Q11.2 MICRODUPLICATION SYNDROME


The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS; see this term), establishing a complementary duplication syndrome.

22Q11.2 MICRODUPLICATION SYNDROME Is also known as duplication 22q11.2|chromosome 22q11.2 microduplication syndrome|trisomy 22q11.2|dup(22)(q11)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about 22Q11.2 MICRODUPLICATION SYNDROME

Top 5 symptoms//phenotypes associated to Brachydactyly and Smooth philtrum

Symptoms // Phenotype % cases
Short stature Very Common - Between 80% and 100% cases
Thin upper lip vermilion Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
High palate Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Brachydactyly and Smooth philtrum. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia Abnormality of the dentition Ptosis Abnormal facial shape Anteverted nares Clinodactyly Seizures Cleft palate Upslanted palpebral fissure Depressed nasal bridge Short foot Poor speech Highly arched eyebrow Long philtrum Epicanthus Frontal bossing Midface retrusion Hypertelorism Protruding ear Wide nasal bridge Full cheeks Clinodactyly of the 5th finger Pectus excavatum Mandibular prognathia High forehead Gastroesophageal reflux Short nose Short distal phalanx of finger Low-set ears Thin vermilion border Synophrys Brachycephaly Prominent nasal bridge Downslanted palpebral fissures Scoliosis Short neck Sparse hair Cognitive impairment Macrotia Growth delay Thick eyebrow Generalized hypotonia Cutis marmorata Hearing impairment

Rare Symptoms - Less than 30% cases


Low anterior hairline Finger clinodactyly Long eyelashes Small hand Downturned corners of mouth Hirsutism Bulbous nose Behavioral abnormality Proximal placement of thumb Exostoses Myopia Hypermetropia Limited elbow movement Muscular hypotonia Widely spaced teeth Narrow forehead Abnormality of the pinna Decreased body weight Deeply set eye Autism Absent speech Intellectual disability, severe Delayed speech and language development Spasticity Sparse eyelashes Camptodactyly of finger Cutaneous finger syndactyly Hypertension Nephronophthisis Chronic kidney disease Cutis laxa Hepatic fibrosis Limb undergrowth Ectodermal dysplasia Stage 5 chronic kidney disease Narrow chest Craniosynostosis Rod-cone dystrophy Renal insufficiency Abnormality of the skeletal system Pectus carinatum Short palm Attention deficit hyperactivity disorder Tapered finger Syndactyly Semilobar holoprosencephaly Macrocephaly Broad philtrum Holoprosencephaly Radioulnar synostosis Preaxial polydactyly Patent foramen ovale Narrow palpebral fissure Plagiocephaly Hyperbilirubinemia Short ribs Hydrops fetalis Rhizomelia Left ventricular hypertrophy Sparse eyebrow Cystic hygroma Mesomelia Hydrocephalus Polysplenia High anterior hairline Biliary cirrhosis Cholangitis Cloverleaf skull Bile duct proliferation Portal fibrosis Horizontal ribs Metopic synostosis Fused teeth Feeding difficulties Intrauterine growth retardation Cholestasis Renal cyst Postaxial hand polydactyly Abnormal heart morphology Shuffling gait Furrowed tongue Diastema Alopecia areata Lower limb hypertonia Low frustration tolerance Small forehead Talipes calcaneovarus Hepatomegaly Splenomegaly Hernia Patent ductus arteriosus Inguinal hernia Microdontia Polydactyly Acidosis Polyhydramnios Retrognathia Elevated hepatic transaminase Proteinuria Telecanthus Joint laxity Microphthalmia Blepharophimosis Dolichocephaly Everted lower lip vermilion Dilatation Ventriculomegaly Hypertrophic cardiomyopathy Recurrent respiratory infections Abdominal situs inversus Narrow face Sleep apnea Abnormality of the genitourinary system Laryngomalacia Nasal speech Stridor Obsessive-compulsive behavior Hypoplastic left heart Transposition of the great arteries Abnormality of immune system physiology Double outlet right ventricle Dyslexia Anomalous pulmonary venous return Stereotypy Heterotaxy Interrupted aortic arch Abnormality of the pharynx Total anomalous pulmonary venous return Urethral stenosis Velopharyngeal insufficiency Anterior creases of earlobe Common atrium Persistent left superior vena cava Displacement of the external urethral meatus Aplasia/Hypoplasia of the thymus Subependymal cysts Situs inversus totalis Depressed nasal ridge EEG abnormality Hemihypertrophy Facial hypotonia Respiratory tract infection Coloboma Esotropia Febrile seizures Wide intermamillary distance Mitral valve prolapse Ventricular hypertrophy Mitral regurgitation Aortic regurgitation Prominent metopic ridge Enlarged cisterna magna Curly eyelashes Tetralogy of Fallot Skull asymmetry Failure to thrive Ventricular septal defect Abnormality of cardiovascular system morphology Prominent forehead Hydronephrosis Anxiety Apnea Neurological speech impairment Wide nose Thick vermilion border Gastrointestinal hemorrhage Specific learning disability Distal lower limb amyotrophy Lower limb hyperreflexia Restlessness Nephropathy Intellectual disability, mild Cataract Sensorineural hearing impairment Flat nasal alae Fusion of the left and right thalami Pneumonia Absent nasal septal cartilage Hypoplasia of the premaxilla Alobar holoprosencephaly Parietal bossing Joint hypermobility Midline defect of the nose Single median maxillary incisor Thick hair Asthma Median cleft lip and palate Hip dysplasia Bilateral microphthalmos Panhypopituitarism Bone marrow hypocellularity Recurrent pneumonia Broad face Cone/cone-rod dystrophy Bilateral cleft lip and palate Depressed nasal tip Bilateral cleft lip Malar flattening Cerebral atrophy Sagittal craniosynostosis Delayed cranial suture closure Craniofacial asymmetry Intestinal malrotation Hemivertebrae Broad eyebrow Short femoral neck Slender finger Submucous cleft hard palate Shallow orbits Vertebral clefting Prominent eyelashes Arnold-Chiari type I malformation Pericarditis Mild short stature Posteriorly rotated ears Tented upper lip vermilion Feeding difficulties in infancy Postnatal growth retardation Abnormal cardiac septum morphology Sparse scalp hair Pulmonic stenosis Flat face Congenital cataract Nail dystrophy Microtia Camptodactyly Hypertrichosis Narrow mouth Elevated serum creatinine Broad distal phalanx of finger Multiple cafe-au-lait spots Aggressive behavior Strabismus Cryptorchidism Dental malocclusion Prominent nose Hyperreflexia Talipes equinovarus Iris coloboma Oral cleft Babinski sign Micropenis Broad forehead Cleft lip Intellectual disability, moderate Cone-shaped epiphyses of the middle phalanges of the hand Spastic paraplegia Paraplegia Falls High, narrow palate Hypoplasia of the maxilla Decreased testicular size Interphalangeal joint contracture of finger Agenesis of corpus callosum Intellectual disability, progressive Large hands Hyperactivity Progressive spastic paraplegia Shortening of all phalanges of fingers Accelerated bone age after puberty Pes valgus Convex nasal ridge Broad phalanx of the toes Median cleft lip Partial agenesis of the corpus callosum Delayed skeletal maturation Osteopenia Abnormality of the nervous system Hyperlordosis Flat occiput Omphalocele Triangular face Short metacarpal Underdeveloped nasal alae Dental crowding Coxa magna Short phalanx of finger Sparse and thin eyebrow Hypotelorism Short metatarsal Cone-shaped epiphysis Short finger Increased number of teeth Fragile nails Sparse lateral eyebrow Avascular necrosis of the capital femoral epiphysis Leukonychia Long upper lip Pear-shaped nose Bilateral trilobed lungs



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