Brachydactyly, and Vomiting

Diseases related with Brachydactyly and Vomiting

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


Top matches:

Medium match PARASTREMMATIC DWARFISM


Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs.

Related symptoms:

  • Short stature
  • Scoliosis
  • Flexion contracture
  • Brachydactyly
  • Short neck


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PARASTREMMATIC DWARFISM

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 ALG8-CDG


ALG8-CDG is a form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis; see this term), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation.

ALG8-CDG Is also known as cdg-ih|congenital disorder of glycosylation type 1h|cdgih|carbohydrate deficient glycoprotein syndrome type ih|cdg1h|cdg syndrome type ih|cdg ih|glucosyltransferase 2 deficiency|congenital disorder of glycosylation type ih

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ALG8-CDG

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Other less relevant matches:

Medium match WAARDENBURG SYNDROME, TYPE 3; WS3


Waardenburg syndrome type 3 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; presence of 'dystopia canthorum,' the lateral displacement of the ocular inner canthi; and upper limb abnormalities (reviews by Read and Newton, 1997 and Pingault et al., 2010). WS type 3 is also referred to as 'Klein-Waardenburg syndrome' (Gorlin et al., 1976). Clinical Variability of Waardenburg Syndrome Types 1-4Waardenburg syndrome has been classified into 4 main phenotypes. Type I Waardenburg syndrome (WS1 ) is characterized by pigmentary abnormalities of the hair, including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia iridis and brilliant blue eyes; congenital sensorineural hearing loss; and 'dystopia canthorum.' WS type II (WS2) is distinguished from type I by the absence of dystopia canthorum. WS type III has dystopia canthorum and is distinguished by the presence of upper limb abnormalities. WS type IV (WS4 ), also known as Waardenburg-Shah syndrome, has the additional feature of Hirschsprung disease (reviews by Read and Newton, 1997 and Pingault et al., 2010).

WAARDENBURG SYNDROME, TYPE 3; WS3 Is also known as klein-waardenburg syndrome|waardenburg syndrome, type iii|waardenburg syndrome with upper limb anomalies

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about WAARDENBURG SYNDROME, TYPE 3; WS3

Low match FEINGOLD SYNDROME 1; FGLDS1


Feingold syndrome is an autosomal dominant disorder characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation. Hand and foot abnormalities may include hypoplastic thumbs, clinodactyly of second and fifth fingers, syndactyly (characteristically between second and third and fourth and fifth toes), and shortened or absent middle phalanges. Cardiac and renal malformations, vertebral anomalies, and deafness have also been described in a minority of patients (summary by Teszas et al., 2006). Genetic Heterogeneity of Feingold SyndromeFeingold syndrome-2 (FGLDS2 ) is caused by hemizygous deletion of the MIR17HG gene (OMIM ) on chromosome 13q31.3.

FEINGOLD SYNDROME 1; FGLDS1 Is also known as digital anomalies with short palpebral fissures and atresia of esophagus or duodenum|microcephaly, mental retardation, and tracheoesophageal fistula syndrome|oded syndrome|mmt syndrome|oculodigitoesophagoduodenal syndrome|moded|feingold syndrome|microceph

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about FEINGOLD SYNDROME 1; FGLDS1

Low match TORIELLO-CAREY SYNDROME


Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia.

TORIELLO-CAREY SYNDROME Is also known as toriello-carey syndrome|corpus callosum agenesis-blepharophimosis-robin sequence syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about TORIELLO-CAREY SYNDROME

Low match ROIFMAN SYNDROME


Roifman syndrome is a rare, genetic immuno-osseous dysplasia disorder characterized by pre- and post-natal growth retardation, hypotonia, borderline to moderate intellectual disability, retinal dystrophy, spondyloepiphyseal dysplasia (epiphyseal dysplasia, epiphyses ossification delay, vertebral changes) and skeletal anomalies (brachydactyly, fifth finger clinodactyly), as well as humeral immunodeficiency characterized by inability to generate specific antibodies and low circulating B-cells. Craniofacial dysmorphism, that typically inlcudes microcephaly, hypertelorism, long palpebral fissures, prominent eyelashes, a narrow, tubular, upturned nose with hypoplastic alae nasi, long philtrum and thin upper lip, are also associated.

ROIFMAN SYNDROME Is also known as spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome|spondyloepiphyseal dysplasia, retinal dystrophy, and antibody deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ROIFMAN SYNDROME

Low match ATELOSTEOGENESIS, TYPE I; AO1


Atelosteogenesis is the name given by Maroteaux et al. (1982) to a lethal chondrodysplasia characterized by distal hypoplasia of the humeri and femurs, hypoplasia of the midthoracic spine, occasionally complete lack of ossification of single hand bones, and the finding in cartilage of multiple degenerated chondrocytes encapsulated in fibrous tissue. Rimoin et al. (1980) termed it 'giant cell chondrodysplasia.' Patients with AO1 exhibit severe short-limbed dwarfism and dislocated elbows, hips, and knees (Jeon et al., 2014). Genetic Heterogeneity of AtelosteogenesisAtelosteogenesis type II (AO2 ) is caused by mutation in the SLC26A2 gene (OMIM ) on chromosome 5q32. AO3 (OMIM ) is also caused by mutation in the FLNB gene (OMIM ).

ATELOSTEOGENESIS, TYPE I; AO1 Is also known as giant cell chondrodysplasia|spondylohumerofemoral hypoplasia|aoi

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about ATELOSTEOGENESIS, TYPE I; AO1

Low match ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX


ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX Is also known as alpha-thalassemia/mental retardation syndrome, nondeletion type|atr, nondeletion type|atr-x syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX

Low match MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1


The term 'X-linked mental retardation-hypotonic facies syndrome' comprises several syndromes previously reported separately. These include Juberg-Marsidi, Carpenter-Waziri, Holmes-Gang, and Smith-Fineman-Myers syndromes as well as 1 family with X-linked mental retardation with spastic paraplegia. All these syndromes were found to be caused by mutation in the XH2 gene and are characterized primarily by severe mental retardation, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women (Abidi et al., 2005). Other more variable features include hypogonadism, deafness, renal anomalies, and mild skeletal defects.X-linked alpha-thalassemia/mental retardation syndrome (ATR-X; {301040}) is an allelic disorder with a similar phenotype with the addition of alpha-thalassemia and Hb H inclusion bodies in erythrocytes.

MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1 Is also known as smith-fineman-myers syndrome 1|chudley-lowry syndrome|holmes-gang syndrome|mental retardation, x-linked, with growth retardation, deafness, and microgenitalism|xlmr-hypotonic facies syndrome|carpenter-waziri syndrome|sfms|sfm1|jms|juberg-marsidi syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1

Top 5 symptoms//phenotypes associated to Brachydactyly and Vomiting

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

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

Common Symptoms - More than 50% cases


Microcephaly

Uncommon Symptoms - Between 30% and 50% cases


Low-set ears

Common Symptoms - More than 50% cases


Anteverted nares

Uncommon Symptoms - Between 30% and 50% cases


Growth delay

Common Symptoms - More than 50% cases


Short stature

Uncommon Symptoms - Between 30% and 50% cases


Clinodactyly Short neck Depressed nasal bridge Cryptorchidism Gastroesophageal reflux Pneumonia Short nose Constipation Posteriorly rotated ears Seizures Micrognathia Wide nasal bridge Ventricular septal defect Talipes equinovarus Hearing impairment Thick vermilion border Telecanthus Cleft palate Sensorineural hearing impairment Hypospadias Flexion contracture Epicanthus Atrial septal defect Polyhydramnios Patent ductus arteriosus Failure to thrive Abdominal pain Narrow palpebral fissure Drooling High palate Thin upper lip vermilion Postnatal growth retardation Abdominal distention Abnormality of the genital system Midface retrusion Intrauterine growth retardation Malar flattening Pain Syndactyly Delayed speech and language development Feeding difficulties Intellectual disability, severe Spasticity Blepharophimosis Kyphoscoliosis

Rare Symptoms - Less than 30% cases


Upslanted palpebral fissure Clinodactyly of the 5th finger Microtia Spastic paraplegia Diarrhea U-Shaped upper lip vermilion Thick lower lip vermilion Tapered finger Macroglossia Severe short stature Bronchomalacia Infantile muscular hypotonia Tented upper lip vermilion Radial deviation of finger Protruding tongue Facial hypotonia Macrotia Underdeveloped nasal alae Paraplegia Aganglionic megacolon Finger clinodactyly Micropenis Scoliosis Short metacarpal Premature birth Meningitis Recurrent pneumonia Hypogonadism Spondyloepiphyseal dysplasia Hyperreflexia Bilateral cryptorchidism Downturned corners of mouth Narrow chest Respiratory failure Agenesis of corpus callosum Recurrent urinary tract infections Everted lower lip vermilion Edema Aspiration Respiratory distress Dysphagia Downslanted palpebral fissures Ptosis Muscular hypotonia Asplenia Short toe Short palpebral fissure Hypertonia Single transverse palmar crease Widely-spaced maxillary central incisors Sinusitis Mandibular prognathia Wide mouth Genu valgum Abnormal cardiac septum morphology Hepatomegaly Anemia Nausea Hyperactivity Autism Decreased fetal movement Anxiety Postural instability Large fontanelles Abnormal intestine morphology Tachypnea Autistic behavior Hyperlordosis Long philtrum Strabismus Abnormality of the skeletal system Protein-losing enteropathy Nail dystrophy Small nail Hypothyroidism Encephalocele Widely spaced teeth Generalized tonic-clonic seizures Poor speech Encephalitis Talipes Inability to walk Hyperkinesis Disproportionate short-limb short stature Scrotal hypoplasia Rhizomelia Abnormality of the outer ear Mild short stature Generalized myoclonic seizures Otitis media Muscle stiffness External genital hypoplasia Joint dislocation Intellectual disability, progressive Increased body weight Limb undergrowth Lumbar hyperlordosis Absence seizures Proptosis Respiratory tract infection Long palpebral fissure Humoral immunodeficiency Short digit Pulmonary edema Narrow nose Irregular vertebral endplates Hip contracture Partial agenesis of the corpus callosum Noncompaction cardiomyopathy Equinovarus deformity Hypoplastic philtrum Pleural effusion Eosinophilia Alternating exotropia Paroxysmal bursts of laughter Overjet Prominent eyelashes Irregular femoral epiphysis Deeply set eye Abnormality of blood and blood-forming tissues Skeletal dysplasia Elbow dislocation Slender finger Weight loss Brachycephaly Recurrent respiratory infections Depressivity Recurrent infections Biconvex vertebral bodies Lower limb hypertonia Short upper lip Frontal bossing Gait disturbance Macrocephaly Bilateral renal hypoplasia Talipes calcaneovalgus Short metatarsal Narrow face Oral-pharyngeal dysphagia Pes planus Hydroureter Spastic diplegia Cerebral cortical atrophy Coarse facial features Hemivertebrae Coxa valga Ambiguous genitalia Shawl scrotum Renal agenesis Dental malocclusion Abnormality of the kidney Dolichocephaly Flat face Abnormality of the foot Microcytic anemia Male pseudohermaphroditism Recurrent otitis media Hemoglobin H Triangular mouth Absent frontal sinuses Reduced alpha/beta synthesis ratio Abnormal hemoglobin Endometriosis Ileus Perimembranous ventricular septal defect Delayed skeletal maturation Hypoganglionosis Optic atrophy Obesity Hypochromic microcytic anemia Decreased serum testosterone level Volvulus Chronic constipation Thick eyebrow Irritability Clubbing Radial bowing Intestinal pseudo-obstruction Coronal cleft vertebrae Lethal skeletal dysplasia Fused cervical vertebrae 11 pairs of ribs Short femur Bell-shaped thorax Long clavicles Loss of speech Short humerus Atonic seizures Progressive spasticity Tibial bowing Flat occiput Fibular aplasia Aplasia/Hypoplasia of the ulna Vesicoureteral reflux Cerebral atrophy Decreased testicular size Narrow forehead Intellectual disability, moderate Hydronephrosis Umbilical hernia Abnormality of metabolism/homeostasis Distal tapering femur Laryngeal stenosis Renal hypoplasia Multinucleated giant chondrocytes in epiphyseal cartilage Club-shaped proximal femur Thoracic platyspondyly Multiple joint dislocation Open mouth Exotropia Mucopolysacchariduria Oligohydramnios Cardiomegaly Scapular winging Vitiligo Sprengel anomaly Cutaneous finger syndactyly Premature graying of hair Albinism Congenital sensorineural hearing impairment Hypopigmented skin patches Joint contracture of the hand Blue irides Anorexia Hypopigmentation of the skin Abnormality of skin pigmentation Synophrys Arthrogryposis multiplex congenita Prominent nasal bridge Camptodactyly of finger Carpal synostosis Heterochromia iridis Arthritis Cognitive impairment Anal atresia Facial asymmetry Toe syndactyly Finger syndactyly Aggressive behavior Renal insufficiency Hypertension Kyphosis White hair Alopecia Poliosis Dacryocystitis Partial albinism Narrow naris White forelock Atelectasis Cleft lip Platyspondyly Triangular face Rheumatoid arthritis Hypermetropia Broad forehead Attention deficit hyperactivity disorder Low-set, posteriorly rotated ears Chronic diarrhea Cachexia Behavioral abnormality Fever Short foot Myopia Malnutrition Scleroderma Thoracic kyphosis Thoracolumbar scoliosis Intestinal polyp Peripheral edema Small hand Broad-based gait Nausea and vomiting Ascites Abnormal isoelectric focusing of serum transferrin Primary hypothyroidism Abnormality of the renal tubule Hypoalbuminemia Decreased liver function Lymphedema Cholestasis Pulmonary hypoplasia Obsessive-compulsive behavior Hepatic failure Camptodactyly Dyspnea Thrombocytopenia Malabsorption Cataract Bowing of the long bones Oral cleft Specific learning disability Eczema Wide anterior fontanel Anteriorly placed anus Hypoplastic left heart Neonatal respiratory distress Proximal placement of thumb Abnormality of the genitourinary system Microretrognathia Sparse eyelashes Pachygyria Double outlet right ventricle Cerebellar vermis hypoplasia Stiff neck Intestinal malrotation Full cheeks Hirsutism Short palm Thin vermilion border Tracheomalacia Pierre-Robin sequence Abnormality of the pinna Fatigue Retinal dystrophy Tachycardia Lymphadenopathy Hepatosplenomegaly Immunodeficiency Splenomegaly Intellectual disability, mild Laryngeal hypoplasia Tracheal stenosis Anotia Extramedullary hematopoiesis Endocardial fibroelastosis Entropion Redundant neck skin Abnormality of the larynx Cleft soft palate Pulmonic stenosis Retrognathia Choanal atresia Hallux valgus Short 5th finger Depressed nasal tip Vocal cord paralysis External ear malformation Esophageal atresia Abnormality of digit Prominent occiput 2-3 toe syndactyly Duodenal atresia Short middle phalanx of finger Tracheoesophageal fistula Nephritis Abnormality of the hand Abnormal vertebral morphology Short thumb Abnormal form of the vertebral bodies Polysplenia Abnormality of the spleen Cerebellar hypoplasia Deviation of the 2nd finger Abnormal heart morphology Hernia Abnormality of cardiovascular system morphology Dilatation Cardiomyopathy Hydrocephalus Hypoplasia of the corpus callosum Aplasia/Hypoplasia of the middle phalanx of the 5th finger Periorbital fullness Aplasia/Hypoplasia of the middle phalanx of the 2nd finger 4-5 toe syndactyly Small anterior fontanelle Annular pancreas Aplasia of the middle phalanx of the hand Frontal balding Accessory spleen Intestinal atresia Triangular nasal tip



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