Brachydactyly, and Intrauterine growth retardation

Diseases related with Brachydactyly and Intrauterine growth retardation

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


Top matches:

Medium match RABSON-MENDENHALL SYNDROME


Rabson-Mendenhall syndrome belongs to the group of extreme insulin-resistance syndromes (which also includes leprechaunism, the lipodystrophies, and the type A and B insulin resistance syndromes; see these terms).

Related symptoms:

  • Short stature
  • Peripheral neuropathy
  • Brachydactyly
  • Intrauterine growth retardation
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about RABSON-MENDENHALL SYNDROME

Medium match MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES; MISSLA


MISSLA is an autosomal recessive disorder characterized by intrauterine growth retardation, microcephaly, variable short stature, and limb abnormalities mainly affecting the upper limb and radial ray. Affected individuals typically have mild intellectual disability, but may have normal development (summary by Reynolds et al., 2017).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES; MISSLA

Medium match TETRALOGY OF FALLOT


Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.

Related symptoms:

  • Growth delay
  • Muscle weakness
  • Cryptorchidism
  • Anemia
  • Brachydactyly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about TETRALOGY OF FALLOT

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Other less relevant matches:

Medium match COLE-CARPENTER SYNDROME


Cole-Carpenter syndrome is an extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia).

COLE-CARPENTER SYNDROME Is also known as bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome|bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about COLE-CARPENTER SYNDROME

Medium match SHORT STATURE-BRACHYDACTYLY-OBESITY-GLOBAL DEVELOPMENTAL DELAY SYNDROME


SHORT STATURE-BRACHYDACTYLY-OBESITY-GLOBAL DEVELOPMENTAL DELAY SYNDROME Is also known as sbidds

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHORT STATURE-BRACHYDACTYLY-OBESITY-GLOBAL DEVELOPMENTAL DELAY SYNDROME

Medium match ACRODYSOSTOSIS WITH MULTIPLE HORMONE RESISTANCE


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Cryptorchidism
  • Delayed speech and language development


SOURCES: ORPHANET MENDELIAN

More info about ACRODYSOSTOSIS WITH MULTIPLE HORMONE RESISTANCE

Medium match LETHAL POLYMALFORMATIVE SYNDROME, BOISSEL TYPE


Lethal polymalformative syndrome, Boissel type is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by failure to thrive, severe developmental delay, severe postanatal microcephaly, frequent congenital cardiac defects and characteristic facial dysmorphysm (including coarse face with anteverted nostrils, thin vermillion, prominent alveolar ridge and retro- or micrognatia). Additional common features include neurologic abnormalities (hyper-/hypotonia, sensorineural deafness, hydrocephalus, cerebral atrophy, seizures), as well as brachydactyly, cutis marmorata and genital anomalies.

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LETHAL POLYMALFORMATIVE SYNDROME, BOISSEL TYPE

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

Medium match ACHONDROPLASIA


Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACHONDROPLASIA

Medium match PERIPHERAL DYSOSTOSIS


Peripheral dysostosis is a rare primary bone dysplasia characterized by cone-shaped epiphyses of the phalanges, hyperextensibility and hyperflexibility of the fingers and marked delay in ossification of hand bones. Short-limbed short stature, very stubby, short fingers and toes, flat face and nose and a large skull may also be associated. There have been no further descriptions in the literature since 1980.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about PERIPHERAL DYSOSTOSIS

Top 5 symptoms//phenotypes associated to Brachydactyly and Intrauterine growth retardation

Symptoms // Phenotype % cases
Growth delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Brachydactyly and Intrauterine growth retardation. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Obesity Anteverted nares Malar flattening Short metacarpal Midface retrusion Depressed nasal bridge Seizures Long philtrum Clinodactyly of the 5th finger Short neck Abnormality of the skeletal system Delayed speech and language development Failure to thrive Abnormal facial shape Ventricular septal defect Patent ductus arteriosus Hydrocephalus Frontal bossing Hypertelorism Generalized hypotonia Thin vermilion border Diabetes mellitus Abnormality of the ribs Mandibular prognathia Microcephaly Short metatarsal Spinal canal stenosis

Rare Symptoms - Less than 30% cases


Severe global developmental delay Mild short stature Accelerated skeletal maturation Severe short stature Increased intracranial pressure Kyphosis Cone-shaped epiphysis Muscular hypotonia Macrocephaly High palate Joint hyperflexibility Congenital hypothyroidism Scoliosis Blue irides Skeletal dysplasia Abnormal form of the vertebral bodies Hypothyroidism Hyperactivity Delayed myelination Pseudohypoparathyroidism Hypospadias Joint stiffness Wide nasal bridge Epicanthus Autism Red hair Round face Wormian bones Bowing of the long bones Abnormality of the metaphysis Short phalanx of finger Retrognathia Underdeveloped supraorbital ridges Fair hair Ventricular hypertrophy Coarse facial features Anemia Mesomelia Clinodactyly Proptosis Dyspnea Micrognathia Abnormal cardiac septum morphology Acanthosis nigricans Asthma Hernia Rhinitis Aplasia/hypoplasia of the extremities Long thorax Absent speech Neonatal short-limb short stature Diaphyseal thickening Large forehead Abnormality of the elbow Umbilical hernia Type I diabetes mellitus Obstructive sleep apnea Cone-shaped epiphyses of the phalanges of the hand Hypertrophic cardiomyopathy Wide mouth Macroglossia Bifid uvula Dandy-Walker malformation Small nail Left ventricular hypertrophy Short chin Hypertonia Osteoarthritis Hypoplastic vertebral bodies Abnormality of the ilium Hypoplasia of the maxilla Elevated calcitonin Cerebral venous thrombosis Small hand Short nose Hypertension Narrow vertebral interpedicular distance Acromelia Low urinary cyclic AMP response to PTH administration Hypoplasia of the nasal bone Absent/hypoplastic paranasal sinuses Narrow sacroiliac notch Childhood onset short-limb short stature Congenital craniofacial dysostosis Hearing impairment Underdeveloped nasal alae Sensorineural hearing impairment Cleft palate Failure to thrive in infancy Hypoplasia of the corpus callosum Eczema Cardiomyopathy Lissencephaly Severe failure to thrive Cutis marmorata Abnormal isoelectric focusing of serum transferrin Limb undergrowth Cholestasis Large fontanelles Lymphedema Decreased liver function Abnormal intestine morphology Tachypnea Hypoalbuminemia Protein-losing enteropathy Abnormality of the renal tubule Primary hypothyroidism Hyperreflexia Dental crowding Dysarthria Ventriculomegaly Hyperhidrosis Dental malocclusion Conductive hearing impairment Apnea Hyperlordosis Sudden cardiac death Neurological speech impairment Narrow chest Micromelia Lumbar hyperlordosis Elevated circulating parathyroid hormone level Protruding tongue Thrombocytopenia Short palm Periorbital fullness Skull asymmetry Cataract Disproportionate short stature Hepatomegaly Limited elbow extension Flared metaphysis Talipes equinovarus Vomiting Diarrhea Chronic otitis media Decreased fetal movement Elbow dislocation Camptodactyly Abnormality of pelvic girdle bone morphology Hepatic failure Genu varum Short long bone Disproportionate short-limb short stature Pulmonary hypoplasia Ascites Clonus Rhizomelia Dry skin Abnormality of the dentition Hyperphosphatemia Tetralogy of Fallot Abnormality of cardiovascular system morphology Arrhythmia Abnormal heart morphology Recurrent respiratory infections Respiratory tract infection Paralysis Broad forehead Dolichocephaly Pulmonic stenosis Cyanosis Hemiparesis Respiratory distress Sinusitis Increased body weight Easy fatigability Clubbing Heart murmur Preauricular pit Polycythemia Poor appetite Hyperventilation Double outlet right ventricle Truncus arteriosus Congestive heart failure Muscle weakness Pulmonary artery atresia Abnormality of the upper urinary tract Generalized hirsutism Coarse hair Polycystic ovaries Precocious puberty Abnormality of the thyroid gland Prematurely aged appearance Growth hormone excess Thick nail Long penis Advanced eruption of teeth Abnormality of the abdominal wall Patellar aplasia Female pseudohermaphroditism Proteinuria Intellectual disability, mild Delayed skeletal maturation Upslanted palpebral fissure Convex nasal ridge Finger clinodactyly Hypoplasia of the radius Radioulnar synostosis Cortical gyral simplification Dislocated radial head Right ventricular hypertrophy Breathing dysregulation Hypocalcemia Deeply set eye Communicating hydrocephalus Vertebral compression fractures Severe hydrops fetalis Multiple suture craniosynostosis Crumpled long bones Orbital craniosynostosis Strabismus Ptosis Peripheral neuropathy Thickened skin Astigmatism Shallow orbits Short foot Broad nasal tip Short palpebral fissure Laryngomalacia Delayed ability to walk Infra-orbital crease Frontal hirsutism Hypogonadism Growth hormone deficiency Specific learning disability Short toe Coronal craniosynostosis Turricephaly Interrupted aortic arch Craniosynostosis Right ventricular failure Abnormal nasal morphology Endocarditis Overriding aorta Pulmonary valve atresia Tetralogy of Fallot with absent pulmonary valve Absence of the pulmonary valve Low-set ears Downslanted palpebral fissures Edema Osteopenia Bruising susceptibility Central hypotonia Delayed eruption of teeth Recurrent fractures Microdontia Blue sclerae Hydrops fetalis Abnormality of dental enamel Increased susceptibility to fractures Abnormality of the voice High pitched voice Pathologic fracture Hyperthyroidism Chronic rhinitis



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