Macrocephaly, and Short metacarpal

Diseases related with Macrocephaly and Short metacarpal

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

Top matches:

Medium match BRACHYDACTYLY TYPE E

Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short.

BRACHYDACTYLY TYPE E Is also known as bde|brachydactyly, type e

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Nystagmus
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about BRACHYDACTYLY TYPE E

Acrocapitofemoral dysplasia is a recently delineated skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax.

Related symptoms:

  • Short stature
  • Scoliosis
  • Brachydactyly
  • Macrocephaly
  • Pectus excavatum


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ACROCAPITOFEMORAL DYSPLASIA

Brachydactyly-short stature-retinitis pigmentosa syndrome is a rare, genetic, congenital limb malformation syndrome characterized by mild to severe short stature, brachydactyly, and retinal degeneration (usually retinitis pigmentosa), associated with variable intellectual disability, develomental delays, and craniofacial anomalies.

BRACHYDACTYLY-SHORT STATURE-RETINITIS PIGMENTOSA SYNDROME Is also known as metaphyseal chondrodysplasia with retinitis pigmentosa

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Micrognathia
  • Low-set ears


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about BRACHYDACTYLY-SHORT STATURE-RETINITIS PIGMENTOSA SYNDROME

Other less relevant matches:

Autosomal dominant anomaly characterized by abnormal ovoid shape GRANULOCYTE nuclei and their clumping chromatin. Mutations in the LAMIN B receptor gene that results in reduced protein levels are associated with the disorder. Heterozygote individuals are healthy with normal granulocyte function while homozygote individuals occasionally have skeletal anomalies, developmental delay, and seizures.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Failure to thrive
  • Strabismus


SOURCES: OMIM MESH MENDELIAN

More info about PELGER-HUET ANOMALY; PHA

Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome is a rare, genetic, primary bone dysplasia disorder characterized by severe pre- and post-natal short stature, facial dysmorphism (incl.dolicocephaly, long triangular face, tall forehead, down-slanting palpebral fissures, prominent nose, long philtrum, small ears), early-onset or postpubertal sparse, short hair and hypoplastic fingernails. Small hands with tapering fingers, bracydactyly and fifth-finger clinodactyly, as well as a high-pitched voice are also associated.

SHORT STATURE-ONYCHODYSPLASIA-FACIAL DYSMORPHISM-HYPOTRICHOSIS SYNDROME Is also known as soft syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHORT STATURE-ONYCHODYSPLASIA-FACIAL DYSMORPHISM-HYPOTRICHOSIS SYNDROME

Medium match OPSISMODYSPLASIA

Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism.

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hypertelorism
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about OPSISMODYSPLASIA

15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features.

15Q13.3 MICRODELETION SYNDROME Is also known as del(15)(q13.3)|chromosome 15q13.3 microdeletion syndrome|monosomy 15q13.3

Related symptoms:

  • Seizures
  • Schizophrenia
  • Bipolar affective disorder


SOURCES: MESH MENDELIAN

More info about 15Q13.3 MICRODELETION SYNDROME

Medium match DESBUQUOIS SYNDROME

Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity with multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. A variant form of DBQD, Kim variant (see these terms), has also been described and is characterized by short stature and articular, minor facial and significant hand anomalies.

DESBUQUOIS SYNDROME Is also known as desbuquois dysplasia|dbqd

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about DESBUQUOIS SYNDROME

Desbuquois dysplasia (DBQD) is an autosomal recessive chondrodysplasia belonging to the multiple dislocation group and characterized by severe prenatal and postnatal growth retardation (stature less than -5 SD), joint laxity, short extremities, and progressive scoliosis. The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and advanced carpal and tarsal bone age with a delta phalanx (summary by Huber et al., 2009).Desbuquois dysplasia is clinically and radiographically heterogeneous, and had been classified into 2 types based on the presence (type 1) or absence (type 2) of characteristic hand anomalies, including an extra ossification center distal to the second metacarpal, delta phalanx, bifid distal thumb phalanx, and dislocation of the interphalangeal joints (Faivre et al., 2004). However, patients with and without these additional hand anomalies have been reported to have mutations in the same gene (see, e.g., CANT1); thus, these features are not distinctive criteria to predict the molecular basis of DBQD (Furuichi et al., 2011). In addition, Kim et al. (2010) described another milder variant of DBQD with almost normal outwardly appearing hands, but significant radiographic changes, including short metacarpals, elongated phalanges, and remarkably advanced carpal bone age. However, there is no accessory ossification center distal to the second metacarpal, and patients do not have thumb anomalies. Similar changes occur in the feet. These patients also tend to develop precocious osteoarthritis of the hand and spine with age. This phenotype is sometimes referred to as the 'Kim variant' of DBQD (Furuichi et al., 2011). Genetic Heterogeneity of Desbuquois DysplasiaDBQD2 (OMIM ) is caused by mutation in the XYLT1 gene (OMIM ) on chromosome 16p12.Two unrelated patients with immunodeficiency-23 (IMD23 ), due to mutation in the PGM3 gene (OMIM ), were reported to have skeletal features reminiscent of DBQD.

DESBUQUOIS DYSPLASIA 1; DBQD1 Is also known as desbuquois syndrome|micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about DESBUQUOIS DYSPLASIA 1; DBQD1

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

Top 5 symptoms//phenotypes associated to Macrocephaly and Short metacarpal

Symptoms // Phenotype % cases
Brachydactyly Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Depressed nasal bridge Common - Between 50% and 80% cases
Short neck Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Macrocephaly and Short metacarpal. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Narrow chest Disproportionate short-limb short stature Severe short stature Short distal phalanx of finger Generalized hypotonia Frontal bossing Skeletal dysplasia Scoliosis Short nose Global developmental delay Anteverted nares Abnormal facial shape Relative macrocephaly Growth delay Short femoral neck Hypertelorism Short metatarsal Bell-shaped thorax Small hand Proptosis Respiratory failure Micrognathia Low-set ears Clinodactyly Midface retrusion Long philtrum Ventricular septal defect Broad thumb Rhizomelia Round face Malar flattening Postnatal growth retardation Respiratory distress Pectus excavatum Coxa vara Edema Small nail Limb undergrowth Hyperlordosis Micromelia

Rare Symptoms - Less than 30% cases

Microcephaly High forehead Mandibular prognathia Advanced ossification of carpal bones Abnormality of the dentition Prominent forehead Kyphosis Coronal cleft vertebrae Generalized tonic-clonic seizures Gingival overgrowth Talipes equinovarus Multiple joint dislocation Osteopenia Joint dislocation Abdominal distention Glaucoma Deeply set eye Flat occiput Obesity Pes planus Joint laxity Cleft palate Seizures Hypoplastic vertebral bodies Flat face Flat acetabular roof Coxa valga Protuberant abdomen Short long bone Wide mouth Metaphyseal widening Recurrent pneumonia Abnormality of the metaphysis Blue sclerae Platyspondyly Joint stiffness Elbow dislocation Polyhydramnios Muscular hypotonia Nail dysplasia Waddling gait Recurrent respiratory infections Respiratory tract infection Lumbar hyperlordosis Renal cyst Short clavicles Joint hyperflexibility Short humerus Short palm Pectus carinatum Delayed skeletal maturation Macrotia Genu varum Disproportionate short stature Failure to thrive Delayed speech and language development Feeding difficulties Cone-shaped epiphysis Horseshoe kidney Ectopic calcification Short femur Osteoarthritis Abnormality of the hand Bowing of the long bones Cataract Microretrognathia Depressed nasal ridge Sandal gap Strabismus Thoracic hypoplasia Congenital glaucoma Cystic hygroma Irregular vertebral endplates Generalized joint laxity Short 1st metacarpal Generalized osteoporosis Nystagmus Broad femoral neck Open angle glaucoma Flattened epiphysis Vertebral clefting Long upper lip Ataxia Large joint dislocations Wide intermamillary distance Narrow mouth Smooth philtrum Toe clinodactyly Radioulnar synostosis Epiphyseal dysplasia Pseudohypoparathyroidism Acne Truncal obesity Abnormal eyelash morphology Broad foot Patellar dislocation Genu recurvatum Broad ribs Aplasia/Hypoplasia of the abdominal wall musculature Knee dislocation Abnormality of the kidney Abnormality of the femoral neck or head region Motor delay Epicanthus Myopia Intrauterine growth retardation Joint hypermobility Immunodeficiency Dilatation Osteoporosis Advanced tarsal ossification Kyphoscoliosis Arthritis Bifid distal phalanx of the thumb Supernumerary metacarpal bones Partial duplication of the distal phalanx of the hallux Tibial bowing Encephalocele Recurrent urinary tract infections Sinusitis Aspiration Meningitis Muscle stiffness Absence seizures Abnormality of the outer ear Drooling Hyperkinesis Oral-pharyngeal dysphagia Clubbing Spondyloepiphyseal dysplasia Progressive spasticity Premature birth Atonic seizures Loss of speech Radial bowing 11 pairs of ribs Fused cervical vertebrae Lethal skeletal dysplasia Intestinal pseudo-obstruction Fibular aplasia Long clavicles Aplasia/Hypoplasia of the ulna Laryngeal stenosis Thoracic platyspondyly Club-shaped proximal femur Multinucleated giant chondrocytes in epiphyseal cartilage Otitis media Generalized myoclonic seizures Phalangeal dislocation Vomiting Upper limb asymmetry Multiple carpal ossification centers Proximal fibular overgrowth Broad first metatarsal Radioulnar dislocation Medial deviation of the foot Splayed fingers Pain Cryptorchidism Spasticity Flexion contracture Hyperreflexia Gait disturbance Abnormality of the skeletal system Recurrent infections Inability to walk Hypospadias Depressivity Constipation Pneumonia Brachycephaly Abdominal pain Weight loss Autism Gastroesophageal reflux Anxiety Autistic behavior Poor speech Talipes Nausea Accelerated skeletal maturation Camptodactyly of finger Short phalanx of finger Sparse hair Downslanted palpebral fissures Small finger Posteriorly rotated ears Diabetes mellitus Cone-shaped epiphysis of the 1st metacarpal Premature epimetaphyseal fusion Dysplasia of the femoral head Retrognathia Fibular overgrowth Developmental regression Cone-shaped capital femoral epiphysis Abnormality of the femoral neck Microtia Rod-cone dystrophy Small for gestational age Severe global developmental delay Dolichocephaly Carious teeth Long face Downturned corners of mouth Enlargement of the distal femoral epiphysis Triangular face Broad nasal tip Prominent nose Short proximal phalanx of thumb Cone-shaped metacarpal epiphyses Type II diabetes mellitus Blindness Intellectual disability, moderate Pointed chin Foot dorsiflexor weakness Metaphyseal chondrodysplasia Congenital blindness Thrombocytopenia Pes cavus Underdeveloped nasal alae Polydactyly Umbilical hernia Leukemia Neutropenia Eczema Recurrent otitis media Retinal degeneration Mild short stature Craniosynostosis Lower limb hyperreflexia Acute lymphoblastic leukemia Upper limb undergrowth Short 4th metacarpal Abnormality of chromosome segregation Short 5th metacarpal Lower limb hypertonia Giant platelets Median cleft palate Folate deficiency Hyposegmentation of neutrophil nuclei Short 3rd metacarpal Nyctalopia Dental crowding Azoospermia Single transverse palmar crease Posterior rib cupping Hypoplasia of the radius Delayed epiphyseal ossification Metaphyseal cupping Renal phosphate wasting Hypoplastic ischia Short ribs Vertebral hypoplasia Anterior rib cupping Hypoplastic pubic bone Abnormally ossified vertebrae Squared iliac bones Severe platyspondyly Schizophrenia Hypoplasia of the ulna Bipolar affective disorder Clinodactyly of the 5th finger Aplasia/Hypoplasia of the distal phalanx of the hallux Straight clavicles Type E brachydactyly Multiple impacted teeth Low-set, posteriorly rotated ears Hip dislocation Hypotrichosis Synophrys Moderately short stature Hirsutism Thick vermilion border Hypophosphatemia Metaphyseal irregularity Widely spaced teeth Splenomegaly High pitched voice Agenesis of permanent teeth Short finger Low hanging columella Oligospermia Hypoplastic pelvis Breast hypoplasia Clitoral hypoplasia Frontal balding Hypoplastic sacrum Broad nail Hepatomegaly Respiratory insufficiency Cupped ribs Prominent supraorbital ridges Short proximal phalanx of finger Delayed ossification of carpal bones Flared iliac wings Ovoid vertebral bodies Short foot Tapered finger Hypoplastic iliac wing Short tibia Large fontanelles Abnormality of epiphysis morphology Wide anterior fontanel Abnormality of the sternum Short thorax Distal tapering femur


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