Macrocephaly, and Severe short stature

Diseases related with Macrocephaly and Severe short stature

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


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High match ACHONDROGENESIS TYPE 1B


Achondrogenesis type 1B (ACG1B), a form of achondrogenesis (see this term), is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage.

ACHONDROGENESIS TYPE 1B Is also known as achondrogenesis, parenti-fraccaro type

Related symptoms:

  • Micrognathia
  • Macrocephaly
  • Frontal bossing
  • Talipes equinovarus
  • Anteverted nares


SOURCES: ORPHANET MENDELIAN

More info about ACHONDROGENESIS TYPE 1B

High match AUTOSOMAL DOMINANT SPONDYLOCOSTAL DYSOSTOSIS


Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs.

AUTOSOMAL DOMINANT SPONDYLOCOSTAL DYSOSTOSIS Is also known as autosomal dominant spondylocostal dysplasia

Related symptoms:

  • Microcephaly
  • Scoliosis
  • Cleft palate
  • Wide nasal bridge
  • Intrauterine growth retardation


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT SPONDYLOCOSTAL DYSOSTOSIS

High match SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE


Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE Is also known as semd, aggrecan type

Related symptoms:

  • Short stature
  • Low-set ears
  • Brachydactyly
  • Macrocephaly
  • Short neck


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE

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Other less relevant matches:

High match ACHONDROGENESIS TYPE 1A


Achondrogenesis type 1A (ACG1A), a form of achondrogenesis (see this term), is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage.

ACHONDROGENESIS TYPE 1A Is also known as achondrogenesis, houston-harris type

Related symptoms:

  • Micrognathia
  • Macrocephaly
  • Frontal bossing
  • Anteverted nares
  • Short neck


SOURCES: ORPHANET MENDELIAN

More info about ACHONDROGENESIS TYPE 1A

High match ACHONDROGENESIS, TYPE IB; ACG1B


The term achondrogenesis has been used to characterize the most severe forms of chondrodysplasia in humans, invariably lethal before or shortly after birth. Achondrogenesis type I is a severe chondrodystrophy characterized radiographically by deficient ossification in the lumbar vertebrae and absent ossification in the sacral, pubic and ischial bones and clinically by stillbirth or early death (Maroteaux and Lamy, 1968; Langer et al., 1969). In addition to severe micromelia, there is a disproportionately large cranium due to marked edema of soft tissues. Classification of AchondrogenesisAchondrogenesis was traditionally divided into 2 types: type I (Parenti-Fraccaro) and type II (Langer-Saldino). Borochowitz et al. (1988) suggested that achondrogenesis type I of Parenti-Fraccaro should be classified into 2 distinct disorders: type IA (ACG1A ), corresponding to the cases originally published by Houston et al. (1972) and Harris et al. (1972), and type IB, corresponding to the case originally published by Fraccaro (1952). Analysis of the case reported by Parenti (1936) by Borochowitz et al. (1988) suggested the diagnosis of achondrogenesis type II, i.e., the Langer-Saldino type (OMIM ). Type IA would be classified as lethal achondrogenesis, Houston-Harris type; type IB, lethal achondrogenesis, Fraccaro type; and type II, lethal achondrogenesis-hypochondrogenesis, Langer-Saldino type. Superti-Furga (1996) suggested that hypochondrogenesis should be considered separately from achondrogenesis type II because the phenotype can be much milder.

ACHONDROGENESIS, TYPE IB; ACG1B Is also known as achondrogenesis, fraccaro type

Related symptoms:

  • Micrognathia
  • Macrocephaly
  • Frontal bossing
  • Anteverted nares
  • Respiratory insufficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about ACHONDROGENESIS, TYPE IB; ACG1B

High match SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA


Spondylo-megaepiphyseal-metaphyseal dysplasia is a rare, genetic primary bone displasia characterized by disproportionate short stature with short, stiff neck and trunk and relatively long limbs, fingers and toes (which may present flexion contractures), severe vertebral body ossification delay (with frequent kyknodysostosis), markedly enlarged round epiphyses of the long bones, absent ossification of pubic bones and multiple pseudoepiphyses of the short tubular bones in hands and feet. Neurological manifestations resulting from cervical spine instability may be observed.

Related symptoms:

  • Short stature
  • Hypertelorism
  • Flexion contracture
  • Macrocephaly
  • Short neck


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA

High match ANAUXETIC DYSPLASIA


Anauxetic dysplasia is a spondyloepimetaphyseal dysplasia characterized by severe short stature of prenatal onset, very short adult height (less than 1 meter), hypodontia, midface hypoplasia, and mild intellectual disability. Vertebrae are ovoid with concave dorsal surfaces in the lumbar region and show delayed bone maturation. Femoral heads and necks are hypoplastic, as are the iliac bodies. Long bones show irregular mineralization of the metaphyses. The first and fifth metacarpals are short and wide with small, late-ossifying epiphyses and bullet-shaped middle phalanges (summary by Barraza-Garcia et al., 2017).For a discussion of genetic heterogeneity of anauxetic dysplasia, see ANXD1 (OMIM ).

ANAUXETIC DYSPLASIA Is also known as spondyloepimetaphyseal dysplasia, menger type|spondyloepimetaphyseal dysplasia, anauxetic type

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ANAUXETIC DYSPLASIA

High match SCHNECKENBECKEN DYSPLASIA


Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia.

SCHNECKENBECKEN DYSPLASIA Is also known as chondrodysplasia with snail-like pelvis|slc35d1-cdg|chondrodysplasia, lethal neonatal, with snail-like pelvis

Related symptoms:

  • Cleft palate
  • Cryptorchidism
  • Brachydactyly
  • Macrocephaly
  • Short neck


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SCHNECKENBECKEN DYSPLASIA

High match BOOMERANG DYSPLASIA


Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing.

Related symptoms:

  • Micrognathia
  • Cryptorchidism
  • Brachydactyly
  • Wide nasal bridge
  • Macrocephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about BOOMERANG DYSPLASIA

High match INFANTILE SYSTEMIC HYALINOSIS


Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands.

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Muscular hypotonia
  • Feeding difficulties
  • Brachydactyly


SOURCES: ORPHANET MENDELIAN

More info about INFANTILE SYSTEMIC HYALINOSIS

Top 5 symptoms//phenotypes associated to Macrocephaly and Severe short stature

Symptoms // Phenotype % cases
Short neck Very Common - Between 80% and 100% cases
Micromelia Common - Between 50% and 80% cases
Brachydactyly Uncommon - Between 30% and 50% cases
Polyhydramnios Uncommon - Between 30% and 50% cases
Narrow chest Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Macrocephaly and Severe short stature. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia Hypoplastic ilia Aplasia/Hypoplasia of the lungs Skeletal dysplasia Short thorax Hydrops fetalis Short ribs Anteverted nares Abnormality of cardiovascular system morphology Flat face Metaphyseal irregularity Frontal bossing Umbilical hernia Cystic hygroma Long philtrum Thickened nuchal skin fold Short nose Short stature Abnormal enchondral ossification Malar flattening Hyperlordosis Midface retrusion

Rare Symptoms - Less than 30% cases


Coxa vara Platyspondyly Abnormally ossified vertebrae Edema Joint laxity Growth delay Lumbar hyperlordosis Abdominal distention Recurrent fractures Relative macrocephaly Short palm Metaphyseal dysplasia Spondyloepimetaphyseal dysplasia Ovoid vertebral bodies Lymphedema Hypoplastic iliac body Wide nasal bridge Cleft palate Cryptorchidism Scoliosis Flexion contracture Short foot Femoral hernia Lethal skeletal dysplasia Disproportionate short stature Abnormality of the ribs Snail-like ilia Increased fibular diameter Underdeveloped nasal alae Alopecia Omphalocele Growth hormone deficiency Abnormality of the metacarpal bones Finger syndactyly Hypoplastic scapulae Advanced tarsal ossification Fibular hypoplasia Dolichocephaly Abnormality of the metaphysis Abnormal form of the vertebral bodies Spontaneous abortion Abnormality of the fingernails Accelerated skeletal maturation Disproportionate short-limb short stature Hypoplastic toenails Flat acetabular roof Unossified vertebral bodies Diaphyseal thickening Lateral clavicle hook Vertebral hypoplasia Hypoplastic vertebral bodies Anterior rib cupping Advanced ossification of carpal bones Severe hydrops fetalis Dumbbell-shaped long bone Absent radius Muscular hypotonia Abnormality of the ulna Increased susceptibility to fractures Thickened skin Chronic diarrhea Gingival overgrowth Hyperpigmentation of the skin Skin ulcer Recurrent bacterial infections Polycystic ovaries Urticaria Malabsorption Abnormality of dental morphology Steatorrhea Telangiectasia of the skin Abnormality of the musculature Osteomalacia Abnormality of the gastrointestinal tract Abnormality of the adrenal glands Subcutaneous nodule Camptodactyly of finger Abnormality of tibia morphology Aplasia/Hypoplasia of the fibula Abnormality of femur morphology Aplasia/Hypoplasia of the abdominal wall musculature Coronal cleft vertebrae Abnormality of the humerus Fibular aplasia Abnormality of the radius Abnormal bone ossification Severe short-limb dwarfism Joint stiffness Hypoplastic nasal septum Poorly ossified vertebrae Failure to thrive Feeding difficulties Immunodeficiency Osteoporosis Osteopenia Coarse facial features Cervical spine instability Global developmental delay Hypoplasia of the femoral head Irregular epiphyses Abnormality of the nail Metaphyseal widening Mesomelia Short finger Proportionate short stature Barrel-shaped chest Vertebral clefting Rhizomelia Functional respiratory abnormality Absent nasal bridge Absent nasal cartilage Multiple rib fractures Respiratory insufficiency Inguinal hernia Breech presentation Hoarse voice Broad thumb Abnormality of bone mineral density Prominent occiput Talipes equinovarus Microcephaly Intrauterine growth retardation Recurrent respiratory infections Upslanted palpebral fissure Spina bifida occulta Vertebral segmentation defect Low-set, posteriorly rotated ears Missing ribs Abnormality of female internal genitalia Abnormal sacrum morphology Posterior rib fusion Low-set ears Posteriorly rotated ears Mandibular prognathia Neonatal short-limb short stature Absent or minimally ossified vertebral bodies Increased vertebral height Cubitus valgus Macroglossia Nail dysplasia Limb undergrowth Small nail Elbow flexion contracture Coxa valga Cone-shaped epiphysis Sparse hair Short femoral neck Thoracolumbar scoliosis Broad ribs Shield chest Delayed ossification of carpal bones Hypoplasia of the capital femoral epiphysis Thoracolumbar kyphoscoliosis Hypodontia Kyphoscoliosis Hypertelorism Pseudoepiphyses Genu valgum Short long bone Genu varum Protuberant abdomen Disproportionate short-trunk short stature Stiff neck Enlarged epiphyses Delayed skeletal maturation Delayed pubic bone ossification Enchondroma Abnormality of the epididymis Pseudoepiphyses of hand bones Intellectual disability Abnormal facial shape Kyphosis Aplasia/Hypoplasia of the thymus



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