Brachydactyly, and Agenesis of corpus callosum

Diseases related with Brachydactyly and Agenesis of corpus callosum

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


Top matches:

Medium match CRANIOSYNOSTOSIS 3; CRS3


Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013). Craniosynostosis-3 includes coronal, sagittal, and multisuture forms (Sharma et al., 2013).For discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Strabismus
  • Ptosis
  • Brachydactyly
  • Syndactyly


SOURCES: OMIM MENDELIAN

More info about CRANIOSYNOSTOSIS 3; CRS3

Medium match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 2


Combined oxidative phosphorylation defect type 2 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by severe intrauterine growth retardation, neonatal limb edema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 2 Is also known as coxpd2|corpus callosum, agenesis of, with dysmorphism and fatal lactic acidosis

Related symptoms:

  • Abnormal facial shape
  • Low-set ears
  • Brachydactyly
  • Ventriculomegaly
  • Edema


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 2

Medium match ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME


Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality.

ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME Is also known as eco syndrome

Related symptoms:

  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Cryptorchidism
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME

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Other less relevant 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 COFFIN-SIRIS SYNDROME 2; CSS2


Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with ARID1A mutations have a wide spectrum of manifestations, from severe intellectual disability and serious internal complications that could result in early death to mild intellectual disability (summary by Kosho et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).The chromosome 1p36.11 duplication syndrome, in which the ARID1A gene is duplicated, is characterized by impaired intellectual development, microcephaly, dysmorphic facial features, and hand and foot anomalies.

COFFIN-SIRIS SYNDROME 2; CSS2 Is also known as mrd14|mental retardation, autosomal dominant 14

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 2; CSS2

Medium match SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY; SRTD3


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 3 WITH OR WITHOUT POLYDACTYLY; SRTD3 Is also known as srps2b|polydactyly with neonatal chondrodystrophy, type iii|verma-naumoff syndrome|asphyxiating thoracic dystrophy 3|short rib-polydactyly syndrome, type i|polydactyly with neonatal chondrodystrophy, type i|srps3|short rib-polydactyly syndrome, type iib|s

Related symptoms:

  • Short stature
  • Scoliosis
  • Cleft palate
  • Brachydactyly
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY; SRTD3

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

Medium match FRONTONASAL DYSPLASIA-SEVERE MICROPHTHALMIA-SEVERE FACIAL CLEFTING SYNDROME


Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome is a rare, genetic, orofacial clefting malformation syndrome characterized by severe frontonasal dysplasia with complete cleft palate, facial cleft, extreme microphtalmia and hypertelorism, frequently associated with eyelid colobomata, sparse or absent eyelashes/eyebrows, wide nasal bridge with hypoplastic alae nasi, low-set, posteriorly rotated ears and caudal appendage in the sacral region.

FRONTONASAL DYSPLASIA-SEVERE MICROPHTHALMIA-SEVERE FACIAL CLEFTING SYNDROME Is also known as alx1-related frontonasal dysplasia|frontonasal dysplasia type 3

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Cleft palate
  • Cataract
  • Ptosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about FRONTONASAL DYSPLASIA-SEVERE MICROPHTHALMIA-SEVERE FACIAL CLEFTING SYNDROME

Medium match X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS


The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems.

X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS Is also known as lujan syndrome|mental retardation, x-linked, with marfanoid habitus|lujan-fryns syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS

Medium match TORIELLO-LACASSIE-DROSTE SYNDROME


Oculo-ectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenital.

TORIELLO-LACASSIE-DROSTE SYNDROME Is also known as oculoectodermal syndrome|aplasia cutis congenita with epibulbar dermoids|aplasia cutis congenita-epibulbar dermoids syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about TORIELLO-LACASSIE-DROSTE SYNDROME

Top 5 symptoms//phenotypes associated to Brachydactyly and Agenesis of corpus callosum

Symptoms // Phenotype % cases
Global developmental delay Uncommon - Between 30% and 50% cases
Cleft palate Uncommon - Between 30% and 50% cases
Wide nasal bridge Uncommon - Between 30% and 50% cases
Cleft lip Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Brachydactyly and Agenesis of corpus callosum. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Low-set ears Intellectual disability Seizures Depressed nasal bridge Polydactyly Hydrocephalus Feeding difficulties Macrocephaly Generalized hypotonia Oral cleft Micrognathia Hypoplasia of the maxilla Hypertelorism High palate Epicanthus Anteverted nares Scoliosis Ptosis Syndactyly Short stature Postaxial polydactyly

Rare Symptoms - Less than 30% cases


Microcephaly Pectus excavatum Short nose Conductive hearing impairment Holoprosencephaly Aplasia/Hypoplasia of the corpus callosum Ambiguous genitalia Muscular hypotonia Depressed nasal tip Parietal bossing Limb undergrowth Eyelid coloboma Hearing impairment Median cleft lip Frontal bossing Bifid tongue Highly arched eyebrow Microphthalmia Protruding ear Thin upper lip vermilion Strabismus Preaxial polydactyly Abnormality of the pinna Telecanthus Camptodactyly of finger Autism Dental malocclusion Low anterior hairline Partial agenesis of the corpus callosum Ventriculomegaly Arachnoid cyst Talipes equinovarus Cleft upper lip Intellectual disability, mild High forehead Brachycephaly Hyperactivity Growth delay Micromelia Short palm Abnormality of the skeletal system Malar flattening Midface retrusion Hypospadias Micropenis Abnormality of cardiovascular system morphology Metaphyseal irregularity Prominent forehead Intrauterine growth retardation Joint hyperflexibility Cognitive impairment Neurological speech impairment Flexion contracture Short philtrum Behavioral abnormality Prominent nasal bridge Ventricular septal defect Atrial septal defect Abnormality of the dentition Attention deficit hyperactivity disorder Joint laxity Dilatation Aggressive behavior Facial cleft Aplasia/Hypoplasia of the frontal sinuses Preauricular skin tag Common atrium Hypoplasia of the epiglottis Tongue nodules Mesoaxial polydactyly Talon cusp Agenesis of central incisor Partial duplication of the phalanges of the hallux Cataract Hypoplasia of the corpus callosum Posteriorly rotated ears Low-set, posteriorly rotated ears Underdeveloped nasal alae Tetralogy of Fallot Recurrent pneumonia Pectoral muscle hypoplasia/aplasia Finger clinodactyly Sparse eyelashes Sparse eyebrow Absent eyebrow Long face Widow's peak Bifid nose Wide nasal base Upper eyelid coloboma Caudal appendage Prominent glabella Cranium bifidum occultum Lipoma of corpus callosum Hypoplasia of the frontal bone Arachnodactyly Macroorchidism Psychosis Lymphedema Hamartoma Absent septum pellucidum Aplasia/Hypoplasia of the skin Multiple lipomas Abnormality of the ear Opacification of the corneal stroma Hyperpigmentation of the skin Aplasia cutis congenita Aganglionic megacolon Short palpebral fissure Coarctation of aorta Abnormality of the cardiovascular system Nevus Astigmatism Generalized hyperpigmentation Abnormality of the ureter Stroke Abnormality of the bladder Anisometropia Gastrointestinal atresia Abnormal conjunctiva morphology Exstrophy Laryngeal hypoplasia Epidermal nevus Abnormality of the penis Transient ischemic attack Epibulbar dermoid Fibroma Bladder exstrophy Epispadias Abnormality of nervous system morphology Lower limb asymmetry Facial asymmetry Coloboma Open mouth Schizophrenia Emotional lability Obsessive-compulsive behavior Aortic aneurysm Abnormality of the voice Nasal speech Deep philtrum Abnormality of the genitourinary system Long nose Short chin Narrow face Hallucinations Anorexia Dental crowding Broad thumb Disproportionate tall stature Narrow nasal bridge Blepharophimosis Cat cry Polyhydramnios Proptosis Alopecia Failure to thrive Neoplasm Abnormally folded helix Oppositional defiant disorder Slender finger Low frustration tolerance Velopharyngeal insufficiency Ascending tubular aorta aneurysm Impaired social interactions Abnormality of the rib cage Bilateral postaxial polydactyly Aortic root aneurysm Lobulated tongue Absent tibia Accessory oral frenulum Midline defect of the nose Smooth philtrum Iris coloboma Prominent nose Hypotelorism Omphalocele Flat occiput Bilateral cleft lip Bilateral cleft lip and palate Broad face Panhypopituitarism Bilateral microphthalmos Median cleft lip and palate Single median maxillary incisor Semilobar holoprosencephaly Macrotia Alobar holoprosencephaly Hypoplasia of the premaxilla Absent nasal septal cartilage Fusion of the left and right thalami Flat nasal alae Delayed speech and language development Visual impairment Motor delay Recurrent infections Delayed skeletal maturation Constipation Coarse facial features Wide mouth Broad forehead Upslanted palpebral fissure Poor speech Lactic acidosis Craniosynostosis Single transverse palmar crease Abnormality of the outer ear Hallux valgus Anterior plagiocephaly Edema Patent ductus arteriosus Acidosis Elevated hepatic transaminase Neonatal hypotonia Feeding difficulties in infancy Small for gestational age Lethargy Metabolic acidosis Ulnar deviation of the hand or of fingers of the hand Increased serum lactate Redundant skin Hypokinesia Redundant neck skin Cryptorchidism Deeply set eye Wide intermamillary distance Sandal gap Scrotal hypoplasia Adrenal hypoplasia Barrel-shaped chest Shield chest Ulnar deviation of the hand Microphallus Sparse hair Thick eyebrow Porencephalic cyst Broad nasal tip Enlarged kidney Thoracic dysplasia Lateral clavicle hook Cerebellar cyst Horizontal ribs Hamartoma of tongue Acetabular spurs Metaphyseal spurs Cerebellar atrophy Abnormal heart morphology Clinodactyly of the 5th finger Apnea Abnormal cerebellum morphology Bifid uvula Transposition of the great arteries Postaxial hand polydactyly Wormian bones Tachypnea Preaxial hand polydactyly Flared metaphysis Atrioventricular canal defect Abnormality of digit Natal tooth Postaxial foot polydactyly Abnormality of finger Preaxial foot polydactyly Bifid nasal tip Abnormality of the larynx Complete atrioventricular canal defect Fibular hypoplasia Metaphyseal dysplasia Wide nose Respiratory insufficiency Thick vermilion border Macroglossia Small nail Thick lower lip vermilion Sparse scalp hair Hypertrichosis Long eyelashes Abnormal corpus callosum morphology Shortening of all distal phalanges of the fingers Aplasia/Hypoplasia of the distal phalanges of the hand Prominent interphalangeal joints Absent fifth toenail Absent fifth fingernail Respiratory distress Femoral bowing Severe short stature Anal atresia Flat face Small hand Intestinal malrotation Abnormality of the genital system Renal dysplasia Short ribs Polycystic kidney dysplasia Hand polydactyly Metaphyseal widening Cone-shaped epiphysis Hypoplasia of the ulna Thoracic hypoplasia Ossifying fibroma



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