Brachydactyly, and Long philtrum

Diseases related with Brachydactyly and Long philtrum

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


Top matches:

Medium match SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY; SRTD19


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:

  • Generalized hypotonia
  • Low-set ears
  • Brachydactyly
  • Ventricular septal defect
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY; SRTD19

Medium match GELEOPHYSIC DYSPLASIA 3; GPHYSD3


Related symptoms:

  • Short stature
  • Abnormal facial shape
  • Depressed nasal bridge
  • Hepatomegaly
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about GELEOPHYSIC DYSPLASIA 3; GPHYSD3

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

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Other less relevant matches:

Medium match ACROMICRIC DYSPLASIA


Acromicric dysplasia is a rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands.

Related symptoms:

  • Short stature
  • Growth delay
  • Abnormal facial shape
  • Brachydactyly
  • Anteverted nares


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ACROMICRIC DYSPLASIA

Medium match CHITAYAT SYNDROME; CHYTS


Chitayat syndrome is a rare condition characterized by respiratory distress presenting at birth, bilateral accessory phalanx resulting in shortened index fingers with ulnar deviation, hallux valgus, and characteristic facial features including prominent eyes, hypertelorism, depressed nasal bridge, full lips, and upturned nose (summary by Balasubramanian et al., 2017).

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Abnormal facial shape
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about CHITAYAT SYNDROME; CHYTS

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

Medium match INTELLECTUAL DISABILITY-COARSE FACE-MACROCEPHALY-CEREBELLAR HYPOTROPHY SYNDROME


Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome is a rare, genetic, central nervous system malformation syndrome characterized by early-onset, progressive, severe cerebellar ataxia associated with progressive, moderate to severe intellecutal disability, global developmental delay, progressively coarsening facial features, relative macrocephaly and absence of seizures. Sensorineural hearing loss may be associated. Neuroimaging reveals cerebellar atrophy/hypoplasia.

INTELLECTUAL DISABILITY-COARSE FACE-MACROCEPHALY-CEREBELLAR HYPOTROPHY SYNDROME Is also known as intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome|scar20|autosomal recessive spinocerebellar ataxia type 20

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-COARSE FACE-MACROCEPHALY-CEREBELLAR HYPOTROPHY SYNDROME

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

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

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Anteverted nares Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Short nose Uncommon - Between 30% and 50% cases
Depressed nasal bridge Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Wide nasal bridge Thick vermilion border Hypertelorism Clinodactyly Generalized hypotonia Global developmental delay Hearing impairment Sensorineural hearing impairment Midface retrusion Syndactyly Thin upper lip vermilion Broad thumb Upslanted palpebral fissure Proptosis Epicanthus Small hand High forehead Camptodactyly Low-set ears Intellectual disability

Rare Symptoms - Less than 30% cases


Posteriorly rotated ears Delayed skeletal maturation Skeletal dysplasia Strabismus Wide nasal base Intellectual disability, mild Myopia Cerebellar atrophy Broad philtrum Highly arched eyebrow Brachycephaly Short phalanx of finger Seizures Delayed speech and language development Smooth philtrum Nystagmus Respiratory failure Cleft lip Thin vermilion border Thick eyebrow Growth delay Prominent forehead Respiratory tract infection Ptosis Short palpebral fissure Micromelia Macrocephaly Downslanted palpebral fissures Severe short stature Dyspnea Radioulnar synostosis Joint stiffness Bulbous nose Relative macrocephaly Abnormality of the dentition Respiratory distress Round face Limb undergrowth Cerebral atrophy Thickened skin Hoarse voice Narrow mouth Dental crowding Narrow nasal tip Cataract Otitis media with effusion Triangular mouth Malar flattening Mandibular prognathia Microtia Mesomelic short stature Overgrowth Narrow naris Wide mouth Micrognathia Cryptorchidism Frontal bossing Abnormality of the skeletal system Hernia Micropenis Umbilical hernia Conductive hearing impairment Ventricular septal defect Short distal phalanx of finger Generalized osteosclerosis Dental malocclusion Otitis media Gingival overgrowth Increased bone mineral density Oligodontia Chronic otitis media Mesomelia Thickened calvaria Depressed nasal tip Nail dystrophy Shallow orbits Congenital cataract Attention deficit hyperactivity disorder Macroglossia Neuronal loss in central nervous system Apraxia Hypertrichosis Broad face Microcephaly Cleft palate Clinodactyly of the 5th finger Hyperactivity Gastroesophageal reflux Pectus carinatum Inability to walk Synophrys Intestinal malrotation Hemivertebrae Finger clinodactyly Cutis marmorata Short femoral neck Slender finger Submucous cleft hard palate Exostoses Vertebral clefting Delayed eruption of teeth Talipes Flat face Ataxia Tapered finger Sparse scalp hair Tented upper lip vermilion Mild short stature Delayed cranial suture closure Pericarditis Arnold-Chiari type I malformation Broad eyebrow Craniofacial asymmetry Scoliosis Spasticity Abnormality of the cerebral white matter High palate Talipes equinovarus Absent speech Hyporeflexia Babinski sign Cerebellar hypoplasia Cerebral cortical atrophy Kyphoscoliosis Coarse facial features Hepatosplenomegaly Autistic behavior Broad distal phalanx of finger Horizontal ribs Broad columella Prominent glabella Long face Single transverse palmar crease Progressive visual loss Narrow forehead Fine hair Sandal gap Cutis laxa Dyschromatopsia Achromatopsia Blue cone monochromacy Hypermetropia Hyposegmentation of neutrophil nuclei Nonprogressive visual loss Oral cleft Short palm Short foot Short metacarpal Thick lower lip vermilion Long eyelashes Abnormality of epiphysis morphology Facial asymmetry Postnatal growth retardation Short long bone Mitral regurgitation Hypoplastic ilia Thoracic dysplasia Hepatomegaly Prominent occiput Thoracic hypoplasia Pneumonia Apnea Hypoplasia of the radius Full cheeks Sleep apnea Pulmonary hypoplasia Epiphyseal dysplasia Pulmonary artery stenosis Subglottic stenosis Short ribs Muscular hypotonia Postaxial polydactyly Optic atrophy Short neck Blindness Reduced visual acuity Narrow palpebral fissure Deep philtrum Congenital hypothyroidism Lateral clavicle hook Bronchospasm Intercostal retractions Dolichocephaly Polydactyly Visual impairment Motor delay Hypertension Alopecia Rod-cone dystrophy Diabetes mellitus Bronchomalacia Glaucoma Hypothyroidism Respiratory insufficiency Deeply set eye Low-set, posteriorly rotated ears Sparse hair Broad nasal tip Delayed myelination Progressive hearing impairment Corneal dystrophy Parietal bossing Short columella Decreased nerve conduction velocity Polyhydramnios Cone-shaped epiphysis Abnormal eyebrow morphology Ovoid vertebral bodies Abnormality of femur morphology Constrictive median neuropathy Fifth metacarpal with ulnar notch Internal notch of the femoral head Pectus excavatum Recurrent respiratory infections Retrognathia Tracheomalacia Finger syndactyly Abnormality of the foot Narrow chest Tachypnea Abnormality of the hand Short middle phalanx of finger Hallux valgus Interstitial pulmonary abnormality Exertional dyspnea Abnormality of digit Prominent eyelashes



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