Brachydactyly, and Thin vermilion border

Diseases related with Brachydactyly and Thin vermilion border

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


Top matches:

Medium match METAPHYSEAL DYSPLASIA-MAXILLARY HYPOPLASIA-BRACHYDACTY SYNDROME


Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome is characterized by metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers two and five). It has been described in several members spanning four generations of a French-Canadian family. The syndrome is likely to be transmitted as an autosomal dominant trait.

Related symptoms:

  • Short stature
  • Brachydactyly
  • Osteoporosis
  • Short philtrum
  • Platyspondyly


SOURCES: OMIM ORPHANET MENDELIAN

More info about METAPHYSEAL DYSPLASIA-MAXILLARY HYPOPLASIA-BRACHYDACTY SYNDROME

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

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Other less relevant matches:

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

Medium match SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY SYNDROME


Among the Yakuts, an Asian population isolate that is located in the northeastern part of Siberia, Maksimova et al. (2010) ascertained a short stature syndrome involving autosomal recessive postnatal growth failure, small hands and feet, loss of visual acuity with abnormalities of color vision, abnormal nuclear shape in neutrophil granulocytes (Pelger-Huet anomaly; see {169400}), and normal intelligence.

SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY SYNDROME Is also known as soph syndrome

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY SYNDROME

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

Top 5 symptoms//phenotypes associated to Brachydactyly and Thin vermilion border

Symptoms // Phenotype % cases
Thin upper lip vermilion Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Strabismus Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Myopia Hypertelorism Short stature Epicanthus Cleft lip Posteriorly rotated ears Growth delay Abnormal facial shape Low-set ears Hypermetropia Delayed speech and language development Short nose Anteverted nares Oral cleft

Rare Symptoms - Less than 30% cases


Microcephaly Motor delay Deeply set eye Abnormal cardiac septum morphology Wide nasal bridge Constipation Sandal gap Feeding difficulties Hearing impairment Wide mouth Broad forehead Long philtrum Thick eyebrow Small hand Hypertension Upslanted palpebral fissure Short foot Single transverse palmar crease Low-set, posteriorly rotated ears Narrow chest Thoracic dysplasia Hydrocephalus Short ribs Syndactyly Platyspondyly Micromelia Respiratory insufficiency Polydactyly Highly arched eyebrow Macrotia Protruding ear Smooth philtrum Sparse hair Iris coloboma Small pituitary gland Prominent nose Dental malocclusion Agenesis of corpus callosum Hypotelorism Omphalocele Holoprosencephaly Flat occiput Partial agenesis of the corpus callosum Median cleft lip Bilateral cleft lip Broad nasal tip Frontal bossing Delayed myelination Small nail Hyperlordosis Wide nasal base Broad columella Autistic behavior Attention deficit hyperactivity disorder Congenital hypothyroidism Corneal dystrophy Progressive hearing impairment Broad-based gait Midface retrusion Obsessive-compulsive behavior Seizures High palate Broad thumb Macrocephaly Hypothyroidism Microphthalmia Short palpebral fissure High forehead Panhypopituitarism Depressed nasal tip Recurrent otitis media Coarse facial features Feeding difficulties in infancy Craniosynostosis Neurological speech impairment Wide nose Otitis media Microdontia Sparse scalp hair Arnold-Chiari malformation Anxiety Trigonocephaly Broad philtrum Sagittal craniosynostosis Alopecia Intellectual disability, mild Cerebellar atrophy Visual impairment Sensorineural hearing impairment Prominent forehead Clinodactyly Bilateral cleft lip and palate Parietal bossing Glaucoma Broad face Nystagmus Bilateral microphthalmos Median cleft lip and palate Single median maxillary incisor Diabetes mellitus Midline defect of the nose Semilobar holoprosencephaly Abnormality of the skeletal system Rod-cone dystrophy Alobar holoprosencephaly Hypoplasia of the premaxilla Absent nasal septal cartilage Fusion of the left and right thalami Flat nasal alae Depressed nasal bridge Downslanted palpebral fissures Abnormal heart morphology Limb undergrowth Gastroesophageal reflux Pes cavus Narrow mouth Neonatal hypotonia Joint laxity Unsteady gait Flat face Inability to walk Hypopigmentation of the skin Hyperplasia of the maxilla Camptodactyly of finger Vertebral wedging Tall stature Abnormal vertebral morphology Bilateral single transverse palmar creases Carpal synostosis Broad foot Thoracolumbar scoliosis Flat acetabular roof Short 1st metacarpal Short lower limbs Absent speech Hypoplastic ischia Distal symphalangism of hands Thin bony cortex Osteoporosis Short philtrum Hypoplasia of the maxilla Short metacarpal Convex nasal ridge Flared metaphysis Metaphyseal dysplasia Premature loss of teeth Short 5th metacarpal Cystic hygroma Short middle phalanx of the 5th finger Short middle phalanx of the 2nd finger Osteoporosis of vertebrae Multiple small vertebral fractures Ventriculomegaly Postaxial polydactyly Intestinal malrotation Polycystic kidney dysplasia Preaxial polydactyly Aplasia of the middle phalanx of the hand Type A1 brachydactyly Autism Glomerulonephritis Inguinal hernia Proteinuria Respiratory tract infection Stage 5 chronic kidney disease Full cheeks Renal hypoplasia Rhizomelia Metaphyseal widening Elevated serum creatinine Cataract Pes valgus Short iliac bones Chronic tubulointerstitial nephritis Pain Fever Atrial septal defect Vomiting Behavioral abnormality Hyperactivity Respiratory distress Nonprogressive visual loss Chess-pawn distal phalanges Postnatal growth retardation Muscular hypotonia Optic atrophy Short neck Blindness Delayed skeletal maturation Brachycephaly Reduced visual acuity Proptosis Facial asymmetry Hyposegmentation of neutrophil nuclei Long face Progressive visual loss Narrow forehead Fine hair Cutis laxa Dyschromatopsia Achromatopsia Prominent glabella Blue cone monochromacy Broad distal phalanx of finger



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