Brachydactyly, and Thin upper lip vermilion

Diseases related with Brachydactyly and Thin upper lip vermilion

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


Top matches:

Medium match SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18


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:

  • Hypertelorism
  • Epicanthus
  • Brachydactyly
  • Ventriculomegaly
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18

Medium match AL-RAQAD SYNDROME; ARS


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about AL-RAQAD SYNDROME; ARS

Medium match BRACHYDACTYLY-DISTAL SYMPHALANGISM SYNDROME


Related symptoms:

  • Pes cavus
  • Thin upper lip vermilion
  • Camptodactyly of finger
  • Single transverse palmar crease
  • Tall stature


SOURCES: OMIM MENDELIAN

More info about BRACHYDACTYLY-DISTAL SYMPHALANGISM SYNDROME

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Other less relevant matches:

Medium match SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY; SRTD5


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 5 WITH OR WITHOUT POLYDACTYLY; SRTD5 Is also known as atd5|asphyxiating thoracic dystrophy 5

Related symptoms:

  • Growth delay
  • Cataract
  • Hypertension
  • Brachydactyly
  • Myopia


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY; SRTD5

Medium match INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD; IDDGIP


IDDGIP is an autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by Jansen et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD; IDDGIP

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 COFFIN-SIRIS SYNDROME 7; CSS7


Coffin-Siris syndrome-7 is an autosomal dominant neurodevelopmental disorder characterized by global developmental delay with mild to moderate intellectual disability, speech impairment, behavioral abnormalities, poor overall growth, coarse facial features, and hypoplastic fifth toenails (summary by Vasileiou et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 7; CSS7

Medium match RETINITIS PIGMENTOSA-HEARING LOSS-PREMATURE AGING-SHORT STATURE-FACIAL DYSMORPHISM SYNDROME


SHRF is an autosomal recessive disorder characterized by short stature, brachydactyly, dysmorphic facial features, hearing loss, and visual impairment. Onset of the hearing and visual abnormalities, including retinitis pigmentosa, varies from birth to the second decade. Patients have mild intellectual disability and mild cerebellar atrophy with myelination defects on brain imaging (summary by Di Donato et al., 2016).

RETINITIS PIGMENTOSA-HEARING LOSS-PREMATURE AGING-SHORT STATURE-FACIAL DYSMORPHISM SYNDROME Is also known as retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA-HEARING LOSS-PREMATURE AGING-SHORT STATURE-FACIAL DYSMORPHISM SYNDROME

Medium match ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2; DRS2


Robinow syndrome is a skeletal dysplasia characterized by distinctive facial features, including midface hypoplasia, hypertelorism, a short nose, and a broad mouth, known collectively as 'fetal facies.' Additional features include mesomelic dwarfism, macrocephaly, gingival hypertrophy, dental malocclusion, genital hypoplasia, and brachydactyly (summary by Bunn et al., 2015). Additionally, increased skull bone density and appendicular osteosclerosis are present in patients with DRS2 (White et al., 2015; Bunn et al., 2015).For a discussion of genetic heterogeneity of Robinow syndrome, see RRS (OMIM ).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2; DRS2

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

Top 5 symptoms//phenotypes associated to Brachydactyly and Thin upper lip vermilion

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Short nose Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Brachydactyly and Thin upper lip vermilion. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Low-set ears Wide nasal bridge Posteriorly rotated ears Cleft lip Anteverted nares Short stature Hearing impairment Wide mouth Delayed speech and language development Midface retrusion Strabismus Upslanted palpebral fissure Epicanthus Myopia Generalized hypotonia Sensorineural hearing impairment Depressed nasal bridge Downslanted palpebral fissures Oral cleft High forehead Long philtrum

Rare Symptoms - Less than 30% cases


Dental malocclusion Camptodactyly Short foot Limb undergrowth Abnormality of the dentition Broad thumb Feeding difficulties Constipation Intellectual disability, mild Low-set, posteriorly rotated ears Hypermetropia Broad forehead Depressed nasal tip Seizures Broad philtrum Macrocephaly Frontal bossing Sparse scalp hair Otitis media Clinodactyly Abnormality of the skeletal system Cataract Hypertension Smooth philtrum Abnormal cardiac septum morphology Narrow chest Short ribs Respiratory insufficiency Flat face Hydrocephalus Deeply set eye Narrow mouth Motor delay Growth delay Microcephaly Polydactyly Thoracic dysplasia Postaxial polydactyly Craniosynostosis Wide nose Broad nasal tip Thick eyebrow Delayed myelination Short palpebral fissure Neurological speech impairment Feeding difficulties in infancy Syndactyly Progressive hearing impairment Corneal dystrophy Coarse facial features Congenital hypothyroidism Broad columella Prominent forehead Sparse hair Intestinal malrotation Recurrent otitis media Microdontia Arnold-Chiari malformation Trigonocephaly Micromelia Sagittal craniosynostosis Small pituitary gland Nystagmus Visual impairment Hypothyroidism Cerebellar atrophy Platyspondyly Wide nasal base Alopecia Rod-cone dystrophy Diabetes mellitus Glaucoma Thoracolumbar scoliosis Micrognathia Broad distal phalanx of finger Congenital cataract Otitis media with effusion Ptosis Malar flattening Cerebral atrophy Brachycephaly Mandibular prognathia Microtia Nail dystrophy Thin vermilion border Mesomelic short stature Tapered finger Tented upper lip vermilion Radioulnar synostosis Mild short stature Delayed cranial suture closure Pericarditis Arnold-Chiari type I malformation Shallow orbits Broad eyebrow Narrow nasal tip Triangular mouth Cryptorchidism Short distal phalanx of finger Hernia Severe short stature Micropenis Proptosis Skeletal dysplasia Umbilical hernia Conductive hearing impairment Ventriculomegaly Overgrowth Narrow naris Dental crowding Short phalanx of finger Gingival overgrowth Increased bone mineral density Oligodontia Chronic otitis media Mesomelia Thickened calvaria Generalized osteosclerosis Abnormal heart morphology Flat nasal alae Polycystic kidney dysplasia Fever Pes valgus Short iliac bones Chronic tubulointerstitial nephritis Single transverse palmar crease Camptodactyly of finger Pain Pes cavus Hyperplasia of the maxilla Sandal gap Glomerulonephritis Atrial septal defect Vomiting Behavioral abnormality Hypopigmentation of the skin Inability to walk Hyperactivity Autism Gastroesophageal reflux Elevated serum creatinine Metaphyseal widening Hyperlordosis Bilateral single transverse palmar creases Short 1st metacarpal Short lower limbs Aplasia of the middle phalanx of the hand Distal symphalangism of hands Type A1 brachydactyly Chess-pawn distal phalanges Broad foot Carpal synostosis Respiratory distress Rhizomelia Inguinal hernia Proteinuria Respiratory tract infection Stage 5 chronic kidney disease Abnormal vertebral morphology Full cheeks Tall stature Renal hypoplasia Anxiety Autistic behavior Preaxial polydactyly Single median maxillary incisor Median cleft lip Bilateral cleft lip Hypoplastic ischia Bilateral cleft lip and palate Broad face Panhypopituitarism Bilateral microphthalmos Median cleft lip and palate Midline defect of the nose Flat occiput Parietal bossing Semilobar holoprosencephaly Alobar holoprosencephaly Hypoplasia of the premaxilla Absent nasal septal cartilage Fusion of the left and right thalami Flat acetabular roof Cystic hygroma Partial agenesis of the corpus callosum Holoprosencephaly Unsteady gait Absent speech Attention deficit hyperactivity disorder Joint laxity Small hand Small nail Broad-based gait Obsessive-compulsive behavior Neonatal hypotonia High palate Microphthalmia Omphalocele Agenesis of corpus callosum Macrotia Protruding ear Iris coloboma Highly arched eyebrow Prominent nose Vertebral wedging Hypotelorism Craniofacial asymmetry



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